I473S (p.Ile473Ser) variant of OCA2 (P protein)
I473S (p.Ile473Ser) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tyrosinase-positive oculocutaneous albinism; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
I473S (p.Ile473Ser) variant details
- p.Ile473Ser
- rs781118824
- ClinGen CA391359580
- ClinVar RCV003388313
- UniProt VAR 006134
- Uncertain significance
- Tyrosinase-positive oculocutaneous albinism; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.86
- MetaSVM 0.92
- CADD 29.60
- ClinVar: Uncertain significance (Tyrosinase-positive oculocutaneous albinism; not specified)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). (PMID 9259203)
- Cited in: Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. (PMID 10094567)