P211A (p.Pro211Ala) variant of OCA2 (P protein)
P211A (p.Pro211Ala) 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; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P211A (p.Pro211Ala) variant details
- p.Pro211Ala
- rs777893926
- ClinGen CA7439407
- cosmic curated COSV62345
- ClinVar RCV001878104
- Pathogenic/Likely pathogenic
- OCA2-related disorder; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.40
- MetaSVM -0.38
- CADD 22.50
- ClinVar: Pathogenic/Likely pathogenic (OCA2-related disorder; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLU)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available