Details for OCA2:c.1441G>A, p.Ala481Thr

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
2822855327983407
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE OCA2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000275.2
CDNA CHANGE c.1441G>A
PROTEIN CHANGE p.Ala481Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0080.00.00430.02680.00990.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0083820.0001230.0021680.016670.024570.047720.0026810.0073290.0009146

ESP
AAEA
0.00.001977
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.358203Polymorphism
DBSNP ID rs74653330
1 combination linked to OCA2:c.1441G>A, p.Ala481Thr OLI073
1 disease linked to OCA2:c.1441G>A, p.Ala481Thr Oculocutaneous albinism
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