A831P (p.Ala831Pro) variant of OCA2 (P protein)
A831P (p.Ala831Pro) 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; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A831P (p.Ala831Pro) variant details
- p.Ala831Pro
- rs183101063
- ClinGen CA268293927
- ClinVar RCV003557842
- ClinVar RCV004690434
- Pathogenic/Likely pathogenic
- Oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.62
- MetaLR 0.79
- MetaSVM 0.69
- CADD 22.60
- ClinVar: Pathogenic/Likely pathogenic (Oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONB)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- 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)