T450M (p.Thr450Met) variant of OCA2 (P protein)
T450M (p.Thr450Met) 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 OCA2-related disorder; Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EY. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
T450M (p.Thr450Met) variant details
- p.Thr450Met
- rs772019064
- ClinGen CA7439078
- NCI-TCGA Cosmic COSV6233
- cosmic curated COSV62337
- Pathogenic/Likely pathogenic
- OCA2-related disorder; Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EY
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.55
- MetaLR 0.86
- MetaSVM 0.90
- CADD 32.00
- ClinVar: Pathogenic/Likely pathogenic (OCA2-related disorder; Tyrosinase-positive oculocutaneous albini)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)