A69T (p.Ala69Thr) variant of PKD1 (Polycystin-1)
A69T (p.Ala69Thr) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A69T (p.Ala69Thr) variant details
- p.Ala69Thr
- TOPMed rs1205227733
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.23
- MetaLR 0.28
- MetaSVM -0.65
- CADD 14.80
- PolyPhen-2 0.14
- SIFT 1.00
- Most common in the South Asian population (allele frequency 5.4e-05)
- Structural context available