This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for PSTPIP1:p.Phe388Leu

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
77329487	77037146

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Phe388Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.848278	Polymorphism

DBSNP ID

1 combination linked to PSTPIP1:p.Phe388Leu

1 disease linked to PSTPIP1:p.Phe388Leu

Common variable immunodeficiency

Found any issues with the data on this page? Report this entry.