C72Y (p.Cys72Tyr) variant of PRPH2 (Peripherin-2)
C72Y (p.Cys72Tyr) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
C72Y (p.Cys72Tyr) variant details
- p.Cys72Tyr
- gnomAD 6-42722120-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.61
- CADD 23.00
- PolyPhen-2 0.12
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available