A15T (p.Ala15Thr) variant of PKD2 (Polycystin-2)
A15T (p.Ala15Thr) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- gnomAD 4-88007776-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.09
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available