L43V (p.Leu43Val) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
L43V (p.Leu43Val) 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 0.42 / 1. The record also includes population frequency data and structural context.
L43V (p.Leu43Val) variant details
- p.Leu43Val
- rs533489657
- 1000Genomes rs533489657
- ExAC rs533489657
- TOPMed rs533489657
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 22.30
- PolyPhen-2 0.47
- SIFT 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available