R290G (p.Arg290Gly) variant of OCA2 (P protein)
R290G (p.Arg290Gly) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R290G (p.Arg290Gly) variant details
- p.Arg290Gly
- rs769408559
- ClinGen CA7439321
- ClinVar RCV001587029
- ClinVar RCV002477856
- Pathogenic/Likely pathogenic
- OCA2-related disorder; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.74
- MetaSVM 0.48
- CADD 21.50
- 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 Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. (PMID 10987646)
- Cited in: MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). (PMID 12876664)