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Details for PSEN2:c.236T>C, p.Leu79Pro

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
227071500	226883799

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.236T>C

PROTEIN CHANGE

p.Leu79Pro

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
1.193e-05	0.0	0.0	0.0	0.0	0.0	2.638e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.680797	Disease causing

DBSNP ID

1 combination linked to PSEN2:c.236T>C, p.Leu79Pro

1 disease linked to PSEN2:c.236T>C, p.Leu79Pro

Amyotrophic lateral sclerosis

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