V110M (p.Val110Met) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
V110M (p.Val110Met) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
V110M (p.Val110Met) variant details
- p.Val110Met
- ExAC rs751498987
- gnomAD rs751498987
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- CADD 28.40
- PolyPhen-2 0.78
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available