A46T (p.Ala46Thr) variant of PKD1 (Polycystin-1)
A46T (p.Ala46Thr) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- TOPMed rs2092940675
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -1.04
- CADD 18.10
- PolyPhen-2 0.04
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)
- Structural context available