S6F (p.Ser6Phe) variant of RP2 (Protein XRP2)
S6F (p.Ser6Phe) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S6F (p.Ser6Phe) variant details
- p.Ser6Phe
- gnomAD X-46837117-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.43
- CADD 23.50
- PolyPhen-2 0.17
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available