L20M (p.Leu20Met) variant of OCA2 (P protein)
L20M (p.Leu20Met) in OCA2 (P protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L20M (p.Leu20Met) variant details
- p.Leu20Met
- ExAC rs748332005
- TOPMed rs748332005
- gnomAD rs748332005
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.28
- ESM-1b 0.30
- AlphaMissense 0.13
- MetaLR 0.55
- MetaSVM -0.25
- CADD 9.39
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available