R88S (p.Arg88Ser) variant of OCA2 (P protein)
R88S (p.Arg88Ser) in OCA2 (P protein) is a missense change. 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.
R88S (p.Arg88Ser) variant details
- p.Arg88Ser
- gnomAD rs1404087528
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.52
- MetaSVM -0.50
- CADD 13.86
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available