A42T (p.Ala42Thr) variant of PKD1 (Polycystin-1)
A42T (p.Ala42Thr) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- TOPMed rs2092940852
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.07
- CADD 21.00
- PolyPhen-2 0.56
- SIFT 0.07
- Population evidence available
- Structural context available