G485R (p.Gly485Arg) variant of OCA2 (P protein)
G485R (p.Gly485Arg) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G485R (p.Gly485Arg) variant details
- p.Gly485Arg
- rs747214535
- ClinGen CA7439033
- NCI-TCGA Cosmic COSV6233
- cosmic curated COSV62339
- Pathogenic/Likely pathogenic
- Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- CADD 32.00
- ClinVar: Pathogenic/Likely pathogenic (Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGME)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)