L429P (p.Leu429Pro) variant of OCA2 (P protein)
L429P (p.Leu429Pro) 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.
L429P (p.Leu429Pro) variant details
- p.Leu429Pro
- rs1595764680
- ClinGen CA391360646
- ClinVar RCV000851377
- Ensembl rs1595764680
- Likely pathogenic
- Tyrosinase-positive oculocutaneous albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 0.94
- CADD 28.70
- ClinVar: Likely pathogenic (Tyrosinase-positive oculocutaneous albinism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)