R9Q (p.Arg9Gln) variant of RP2 (Protein XRP2)
R9Q (p.Arg9Gln) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- gnomAD X-46837126-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.20
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available