Details for OCA2:c.1327G>A, p.Val443Ile

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
2823024727985101
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE OCA2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000275.2
CDNA CHANGE c.1327G>A
PROTEIN CHANGE p.Val443Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.00.00.00.0040.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0030470.0016750.0020260.0036870.00038110.00078890.0051280.0036010.0001307

ESP
AAEA
0.002270.006279
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.931838Disease causing
DBSNP ID rs121918166
1 combination linked to OCA2:c.1327G>A, p.Val443Ile OLI217
1 disease linked to OCA2:c.1327G>A, p.Val443Ile Ocular albinism
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