A12G (p.Ala12Gly) variant of PKD1 (Polycystin-1)
A12G (p.Ala12Gly) in PKD1 (Polycystin-1) is a missense change. 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.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- TOPMed rs1443010363
- gnomAD rs1443010363
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.05
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available