A134T (p.Ala134Thr) variant of PKD1 (Polycystin-1)
A134T (p.Ala134Thr) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A134T (p.Ala134Thr) variant details
- p.Ala134Thr
- gnomAD rs1362871350
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.16
- MetaLR 0.54
- MetaSVM -0.45
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available