L440S (p.Leu440Ser) variant of OCA2 (P protein)
L440S (p.Leu440Ser) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tyrosinase-positive oculocutaneous albinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
L440S (p.Leu440Ser) variant details
- p.Leu440Ser
- rs2041306355
- ClinGen CA391360583
- ClinVar RCV001249766
- Ensembl rs2041306355
- Likely pathogenic
- Tyrosinase-positive oculocutaneous albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.90
- MetaSVM 1.03
- CADD 29.20
- ClinVar: Likely pathogenic (Tyrosinase-positive oculocutaneous albinism)
- EBI: Likely pathogenic (in dbSNP:rs1800408)
- UniProt: Likely pathogenic (in dbSNP:rs1800408)
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)