R112Q (p.Arg112Gln) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
R112Q (p.Arg112Gln) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R112Q (p.Arg112Gln) variant details
- p.Arg112Gln
- TOPMed rs953274911
- gnomAD rs953274911
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 0.11
- MetaLR 0.84
- MetaSVM 0.54
- CADD 23.00
- PolyPhen-2 0.10
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available