S85F (p.Ser85Phe) variant of OCA2 (P protein)
S85F (p.Ser85Phe) in OCA2 (P protein) is a missense change. 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.
S85F (p.Ser85Phe) variant details
- p.Ser85Phe
- TOPMed rs2042923919
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.31
- MetaSVM -0.67
- CADD 9.64
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available