Details for PRF1:c.445G>A, p.Gly149Ser

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
7236021470600458
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed_and_verified
GENE PRF1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_005041.4
CDNA CHANGE c.445G>A
PROTEIN CHANGE p.Gly149Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00080.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00014320.0001230.00063610.00.00.03.517e-050.00097756.533e-05

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging2.996412Disease causing
DBSNP ID rs147462227
1 combination linked to PRF1:c.445G>A, p.Gly149Ser OLI533
1 disease linked to PRF1:c.445G>A, p.Gly149Ser Familial hemophagocytic lymphohistiocytosis
Found any issues with the data on this page? Report this entry.