A112V (p.Ala112Val) variant of PKD1 (Polycystin-1)
A112V (p.Ala112Val) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A112V (p.Ala112Val) variant details
- p.Ala112Val
- TOPMed rs1261496619
- gnomAD rs1261496619
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.05
- MetaLR 0.12
- MetaSVM -1.02
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.9e-05)
- Structural context available