G109R (p.Gly109Arg) variant of PKD1 (Polycystin-1)
G109R (p.Gly109Arg) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G109R (p.Gly109Arg) variant details
- p.Gly109Arg
- Ensembl rs2092683833
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.29
- MetaLR 0.26
- MetaSVM -0.69
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available