L20V (p.Leu20Val) variant of OCA2 (P protein)
L20V (p.Leu20Val) 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 0.23 / 1. The record also includes population frequency data and structural context.
L20V (p.Leu20Val) variant details
- p.Leu20Val
- ExAC rs748332005
- TOPMed rs748332005
- gnomAD rs748332005
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.55
- MetaSVM -0.41
- CADD 5.61
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available