E119G (p.Glu119Gly) variant of PKD1 (Polycystin-1)
E119G (p.Glu119Gly) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E119G (p.Glu119Gly) variant details
- p.Glu119Gly
- ExAC rs748839748
- gnomAD rs748839748
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.11
- MetaLR 0.22
- MetaSVM -0.44
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available