T45M (p.Thr45Met) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
T45M (p.Thr45Met) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
T45M (p.Thr45Met) variant details
- p.Thr45Met
- ExAC rs760528165
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 25.70
- PolyPhen-2 0.56
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available