L98R (p.Leu98Arg) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
L98R (p.Leu98Arg) 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 0.60 / 1. The record also includes population frequency data and structural context.
L98R (p.Leu98Arg) variant details
- p.Leu98Arg
- rs2034111132
- ClinGen CA398753237
- ClinVar RCV002938842
- Ensembl rs2034111132
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- CADD 25.40
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available