R10W (p.Arg10Trp) variant of OCA2 (P protein)
R10W (p.Arg10Trp) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R10W (p.Arg10Trp) variant details
- p.Arg10Trp
- rs554862186
- ClinGen CA7439619
- ClinVar RCV003041217
- UniProt VAR 020622
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.52
- MetaSVM -0.25
- CADD 17.78
- ClinVar: Likely benign (not provided)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. (PMID 12713581)
- Cited in: Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. (PMID 10094567)