W25L (p.Trp25Leu) variant of PRPH2 (Peripherin-2)
W25L (p.Trp25Leu) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
W25L (p.Trp25Leu) variant details
- p.Trp25Leu
- 1000Genomes rs535111150
- ExAC rs535111150
- gnomAD rs535111150
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.70
- CADD 24.10
- PolyPhen-2 0.32
- SIFT 0.00
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available