R73C (p.Arg73Cys) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
R73C (p.Arg73Cys) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R73C (p.Arg73Cys) variant details
- p.Arg73Cys
- Ensembl rs2034115909
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- CADD 32.00
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available