T56K (p.Thr56Lys) variant of RP2 (Protein XRP2)
T56K (p.Thr56Lys) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T56K (p.Thr56Lys) variant details
- p.Thr56Lys
- gnomAD X-46853540-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.21
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available