R53S (p.Arg53Ser) variant of OCA2 (P protein)
R53S (p.Arg53Ser) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R53S (p.Arg53Ser) variant details
- p.Arg53Ser
- TOPMed rs1379944735
- gnomAD rs1379944735
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.38
- MetaSVM -0.68
- CADD 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available