G25C (p.Gly25Cys) variant of PKD1 (Polycystin-1)
G25C (p.Gly25Cys) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G25C (p.Gly25Cys) variant details
- p.Gly25Cys
- TOPMed rs2092941472
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -0.96
- CADD 15.50
- PolyPhen-2 0.08
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available