G79R (p.Gly79Arg) variant of PRPH2 (Peripherin-2)
G79R (p.Gly79Arg) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G79R (p.Gly79Arg) variant details
- p.Gly79Arg
- gnomAD 6-42722100-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.95
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available