V27L (p.Val27Leu) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
V27L (p.Val27Leu) 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 0.25 / 1. The record also includes population frequency data and structural context.
V27L (p.Val27Leu) variant details
- p.Val27Leu
- rs747555052
- ExAC rs747555052
- TOPMed rs747555052
- gnomAD rs747555052
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available