W25S (p.Trp25Ser) variant of PRPH2 (Peripherin-2)
W25S (p.Trp25Ser) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
W25S (p.Trp25Ser) variant details
- p.Trp25Ser
- 1000Genomes rs535111150
- ExAC rs535111150
- gnomAD rs535111150
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.83
- CADD 27.10
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available