V41M (p.Val41Met) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
V41M (p.Val41Met) 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.
V41M (p.Val41Met) variant details
- p.Val41Met
- gnomAD rs1293365273
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 24.80
- PolyPhen-2 0.91
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available