F5S (p.Phe5Ser) variant of RP2 (Protein XRP2)
F5S (p.Phe5Ser) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
F5S (p.Phe5Ser) variant details
- p.Phe5Ser
- gnomAD X-46837114-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.56
- CADD 23.50
- PolyPhen-2 0.19
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available