A69V (p.Ala69Val) variant of PKD1 (Polycystin-1)
A69V (p.Ala69Val) in PKD1 (Polycystin-1) 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 0.33 / 1. The record also includes population frequency data and structural context.
A69V (p.Ala69Val) variant details
- p.Ala69Val
- rs2151858171
- ClinGen CA394282155
- ClinVar RCV001354318
- Ensembl rs2151858171
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.23
- MetaLR 0.25
- MetaSVM -0.75
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available