G20E (p.Gly20Glu) variant of PKD1 (Polycystin-1)
G20E (p.Gly20Glu) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G20E (p.Gly20Glu) variant details
- p.Gly20Glu
- TOPMed rs2092941594
- gnomAD rs2092941594
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.17
- MetaLR 0.07
- MetaSVM -1.07
- CADD 22.20
- PolyPhen-2 0.71
- SIFT 0.28
- Most common in the Latino/Admixed American population (allele frequency 0.00014)
- Structural context available