A14V (p.Ala14Val) variant of OCA2 (P protein)
A14V (p.Ala14Val) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-positive oculocutane. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs763734477
- ClinGen CA7439611
- cosmic curated COSV10066
- ClinVar RCV001905699
- Conflicting interpretations
- SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-positive oculocutane
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.38
- MetaSVM -0.60
- CADD 0.32
- ClinVar: Conflicting classifications of pathogenicity (SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-posi)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:KARITIANA population (allele frequency 0.05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)