A787T (p.Ala787Thr) variant of OCA2 (P protein)
A787T (p.Ala787Thr) 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 Albinism or congenital nystagmus; not provided; Tyrosinase-positive oculocutaneo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A787T (p.Ala787Thr) variant details
- p.Ala787Thr
- rs142988897
- ClinGen CA7438598
- cosmic curated COSV62350
- ClinVar RCV000989277
- Pathogenic/Likely pathogenic
- Albinism or congenital nystagmus; not provided; Tyrosinase-positive oculocutaneo
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.77
- MetaSVM 0.71
- CADD 27.00
- ClinVar: Pathogenic/Likely pathogenic (Albinism or congenital nystagmus; not provided; Tyrosinase-posit)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the 1KG:CLM population (allele frequency 0.011)
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)