V443I (p.Val443Ile) variant of OCA2 (P protein)
V443I (p.Val443Ile) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Albinism or congenital nystagmus; OCA2-related disorder; Autosomal recessive OCA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V443I (p.Val443Ile) variant details
- p.Val443Ile
- rs121918166
- ClinGen CA251634
- cosmic curated COSV62340
- ClinVar RCV000001006
- Uncertain significance
- Albinism or congenital nystagmus; OCA2-related disorder; Autosomal recessive OCA
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.49
- MetaLR 0.67
- MetaSVM 0.51
- CADD 28.60
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the HGDP:ORCADIAN population (allele frequency 0.036)
- 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)