G72D (p.Gly72Asp) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
G72D (p.Gly72Asp) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G72D (p.Gly72Asp) variant details
- p.Gly72Asp
- gnomAD rs1384611067
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available