S87P (p.Ser87Pro) variant of OCA2 (P protein)
S87P (p.Ser87Pro) in OCA2 (P protein) is a missense change. 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.
S87P (p.Ser87Pro) variant details
- p.Ser87Pro
- TOPMed rs2042923523
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.68
- MetaSVM -0.20
- CADD 14.16
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available