A20V (p.Ala20Val) variant of PKD2 (Polycystin-2)
A20V (p.Ala20Val) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- rs1213258236
- ClinGen CA357624971
- ClinVar RCV001288350
- TOPMed rs1213258236
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.06
- CADD 16.10
- PolyPhen-2 0.02
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available