T56A (p.Thr56Ala) variant of RP2 (Protein XRP2)
T56A (p.Thr56Ala) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T56A (p.Thr56Ala) variant details
- p.Thr56Ala
- gnomAD X-46853539-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.24
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available