V27F (p.Val27Phe) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
V27F (p.Val27Phe) 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 0.30 / 1. The record also includes population frequency data and structural context.
V27F (p.Val27Phe) variant details
- p.Val27Phe
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 20.00
- PolyPhen-2 0.17
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available