A97V (p.Ala97Val) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
A97V (p.Ala97Val) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
A97V (p.Ala97Val) variant details
- p.Ala97Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 23.80
- PolyPhen-2 0.06
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available