P17T (p.Pro17Thr) variant of RP2 (Protein XRP2)
P17T (p.Pro17Thr) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P17T (p.Pro17Thr) variant details
- p.Pro17Thr
- gnomAD X-46837149-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.22
- CADD 0.78
- PolyPhen-2 0.00
- SIFT 0.65
- Population evidence available
- Structural context available
- Literature evidence available