R73L (p.Arg73Leu) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
R73L (p.Arg73Leu) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, 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 0.74 / 1. The record also includes population frequency data and structural context.
R73L (p.Arg73Leu) variant details
- p.Arg73Leu
- rs2034115814
- TOPMed rs2034115814
- gnomAD rs2034115814
- ClinGen CA398753777
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 24.70
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available