T387M (p.Thr387Met) variant of OCA2 (P protein)
T387M (p.Thr387Met) 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 Oculocutaneous albinism; OCA2-related disorder; Tyrosinase-positive oculocutaneo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
T387M (p.Thr387Met) variant details
- p.Thr387Met
- rs150335311
- ClinGen CA7439186
- cosmic curated COSV62359
- ClinVar RCV001121677
- Pathogenic/Likely pathogenic
- Oculocutaneous albinism; OCA2-related disorder; Tyrosinase-positive oculocutaneo
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.87
- MetaSVM 0.87
- CADD 31.00
- ClinVar: Pathogenic/Likely pathogenic (Oculocutaneous albinism; OCA2-related disorder; Tyrosinase-posit)
- EBI: Pathogenic (in dbSNP:rs150335311)
- UniProt: Pathogenic (in dbSNP:rs150335311)
- Most common in the HGDP:HEZHEN population (allele frequency 0.062)
- Structural context available
- Cited in: Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. (PMID 12713581)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)