G25S (p.Gly25Ser) variant of PKD1 (Polycystin-1)
G25S (p.Gly25Ser) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G25S (p.Gly25Ser) variant details
- p.Gly25Ser
- TOPMed rs2092941472
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.01
- MetaLR 0.05
- MetaSVM -1.03
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the South Asian population (allele frequency 5.9e-05)
- Structural context available