P24Q (p.Pro24Gln) variant of RP2 (Protein XRP2)
P24Q (p.Pro24Gln) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P24Q (p.Pro24Gln) variant details
- p.Pro24Gln
- gnomAD X-46837171-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.32
- CADD 18.70
- PolyPhen-2 0.04
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available