G25R (p.Gly25Arg) variant of PKD1 (Polycystin-1)
G25R (p.Gly25Arg) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G25R (p.Gly25Arg) variant details
- p.Gly25Arg
- TOPMed rs2092941472
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.02
- MetaLR 0.06
- MetaSVM -1.00
- CADD 14.50
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available