A787E (p.Ala787Glu) variant of OCA2 (P protein)
A787E (p.Ala787Glu) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nonsyndromic Oculocutaneous Albinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
A787E (p.Ala787Glu) variant details
- p.Ala787Glu
- rs200457227
- ClinGen CA391358504
- ClinVar RCV000755093
- ExAC rs200457227
- Likely pathogenic
- Nonsyndromic Oculocutaneous Albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.81
- MetaSVM 0.87
- CADD 26.20
- ClinVar: Likely pathogenic (Nonsyndromic Oculocutaneous Albinism)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Structural context available