A112T (p.Ala112Thr) variant of PKD1 (Polycystin-1)
A112T (p.Ala112Thr) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A112T (p.Ala112Thr) variant details
- p.Ala112Thr
- gnomAD rs1241541582
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.02
- MetaLR 0.08
- MetaSVM -1.07
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available