C3F (p.Cys3Phe) variant of RP2 (Protein XRP2)
C3F (p.Cys3Phe) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
C3F (p.Cys3Phe) variant details
- p.Cys3Phe
- gnomAD X-46837108-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.80
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available