E24V (p.Glu24Val) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E24V (p.Glu24Val) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E24V (p.Glu24Val) variant details
- p.Glu24Val
- Ensembl rs1023804221
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 26.20
- PolyPhen-2 0.86
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available