A103V (p.Ala103Val) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
A103V (p.Ala103Val) 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 0.80 / 1. The record also includes population frequency data and structural context.
A103V (p.Ala103Val) variant details
- p.Ala103Val
- gnomAD rs1253702848
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 29.70
- PolyPhen-2 0.59
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available