G79V (p.Gly79Val) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
G79V (p.Gly79Val) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G79V (p.Gly79Val) variant details
- p.Gly79Val
- ExAC rs759636901
- TOPMed rs759636901
- gnomAD rs759636901
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available