L527R (p.Leu527Arg) variant of OCA2 (P protein)
L527R (p.Leu527Arg) 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 SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; OCA2-related disorder; Tyrosina. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L527R (p.Leu527Arg) variant details
- p.Leu527Arg
- rs779850564
- ClinGen CA7438983
- ClinVar RCV001366949
- ClinVar RCV003389336
- Pathogenic/Likely pathogenic
- SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; OCA2-related disorder; Tyrosina
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.70
- MetaSVM 0.57
- CADD 27.70
- ClinVar: Pathogenic/Likely pathogenic (SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; OCA2-related di)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)