A23V (p.Ala23Val) variant of PKD1 (Polycystin-1)
A23V (p.Ala23Val) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polycystic kidney disease, adult type; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- TOPMed rs1026325632
- gnomAD rs1026325632
- Uncertain significance
- Polycystic kidney disease, adult type; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.06
- CADD 19.50
- PolyPhen-2 0.08
- SIFT 0.01
- ClinVar: Uncertain significance (Polycystic kidney disease, adult type; Inborn genetic diseases;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available