P88S (p.Pro88Ser) variant of PRPH2 (Peripherin-2)
P88S (p.Pro88Ser) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P88S (p.Pro88Ser) variant details
- p.Pro88Ser
- gnomAD rs1761914612
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.08
- CADD 15.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available