S48L (p.Ser48Leu) variant of OCA2 (P protein)
S48L (p.Ser48Leu) in OCA2 (P protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Tyrosinase-positive oculocutaneous albinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S48L (p.Ser48Leu) variant details
- p.Ser48Leu
- cosmic curated COSV62348
- 1000Genomes rs576846193
- ExAC rs576846193
- TOPMed rs576846193
- Uncertain significance
- Tyrosinase-positive oculocutaneous albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.41
- MetaSVM -0.61
- CADD 1.00
- ClinVar: Uncertain significance (Tyrosinase-positive oculocutaneous albinism)
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available