F4L (p.Phe4Leu) variant of RP2 (Protein XRP2)
F4L (p.Phe4Leu) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
F4L (p.Phe4Leu) variant details
- p.Phe4Leu
- gnomAD X-46837112-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.24
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.72
- Population evidence available
- Structural context available
- Literature evidence available