P88L (p.Pro88Leu) variant of PRPH2 (Peripherin-2)
P88L (p.Pro88Leu) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P88L (p.Pro88Leu) variant details
- p.Pro88Leu
- TOPMed rs1761914575
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.17
- CADD 21.10
- PolyPhen-2 0.06
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available