G79A (p.Gly79Ala) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
G79A (p.Gly79Ala) 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.
G79A (p.Gly79Ala) variant details
- p.Gly79Ala
- ExAC rs759636901
- TOPMed rs759636901
- gnomAD rs759636901
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available