E31K (p.Glu31Lys) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E31K (p.Glu31Lys) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- gnomAD rs1480946255
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- CADD 23.20
- PolyPhen-2 0.37
- SIFT 0.21
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available