G68A (p.Gly68Ala) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
G68A (p.Gly68Ala) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
G68A (p.Gly68Ala) variant details
- p.Gly68Ala
- TOPMed rs1192274088
- gnomAD rs1192274088
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 23.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available