P96L (p.Pro96Leu) variant of PRPH2 (Peripherin-2)
P96L (p.Pro96Leu) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P96L (p.Pro96Leu) variant details
- p.Pro96Leu
- TOPMed rs1167627551
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.37
- CADD 20.20
- PolyPhen-2 0.14
- SIFT 0.73
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available