I473N (p.Ile473Asn) variant of OCA2 (P protein)
I473N (p.Ile473Asn) 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; Tyrosinase-positive oculocutane. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
I473N (p.Ile473Asn) variant details
- p.Ile473Asn
- rs781118824
- ClinGen CA267890284
- ClinVar RCV002861944
- ClinVar RCV005002891
- Pathogenic/Likely pathogenic
- SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-positive oculocutane
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.86
- MetaSVM 0.92
- CADD 29.40
- ClinVar: Pathogenic/Likely pathogenic (SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-posi)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)