D117V (p.Asp117Val) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
D117V (p.Asp117Val) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
D117V (p.Asp117Val) variant details
- p.Asp117Val
- TOPMed rs914905499
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available