P24T (p.Pro24Thr) variant of RP2 (Protein XRP2)
P24T (p.Pro24Thr) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P24T (p.Pro24Thr) variant details
- p.Pro24Thr
- gnomAD X-46837170-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.34
- CADD 18.40
- PolyPhen-2 0.12
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available