Details for SCRIB:c.3979G>A, p.Val1327Met

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
144875184143793014
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SCRIB
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_015356.4
CDNA CHANGE c.3979G>A
PROTEIN CHANGE p.Val1327Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.00.00290.00.0020.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00044630.00.00010790.00.00.0012110.00072850.00.0001099

ESP
AAEA
0.00.0005928
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging2.956656Polymorphism
DBSNP ID rs201563528
1 combination linked to SCRIB:c.3979G>A, p.Val1327Met OLI758
1 disease linked to SCRIB:c.3979G>A, p.Val1327Met Isolated anencephaly
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