L77Q (p.Leu77Gln) variant of PRPH2 (Peripherin-2)
L77Q (p.Leu77Gln) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L77Q (p.Leu77Gln) variant details
- p.Leu77Gln
- gnomAD 6-42722105-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.71
- CADD 27.40
- PolyPhen-2 0.89
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available