G485V (p.Gly485Val) variant of OCA2 (P protein)
G485V (p.Gly485Val) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Oculocutaneous albinism; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G485V (p.Gly485Val) variant details
- p.Gly485Val
- rs2041233118
- ClinGen CA391359388
- ClinVar RCV003557846
- ClinVar RCV005433413
- Likely pathogenic
- Oculocutaneous albinism; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- CADD 29.20
- ClinVar: Likely pathogenic (Oculocutaneous albinism; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Skin Cancer (PDQ®): Health Professional Version. (PMID 26389333)