G132A (p.Gly132Ala) variant of PKD1 (Polycystin-1)
G132A (p.Gly132Ala) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G132A (p.Gly132Ala) variant details
- p.Gly132Ala
- TOPMed rs1353418836
- gnomAD rs1353418836
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.23
- MetaLR 0.46
- MetaSVM -0.62
- CADD 5.88
- PolyPhen-2 0.00
- SIFT 0.17
- Population evidence available
- Structural context available