W94R (p.Trp94Arg) variant of PRPH2 (Peripherin-2)
W94R (p.Trp94Arg) 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.
W94R (p.Trp94Arg) variant details
- p.Trp94Arg
- 1000Genomes rs567678322
- ExAC rs567678322
- gnomAD rs567678322
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.81
- CADD 24.00
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available