L74F (p.Leu74Phe) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
L74F (p.Leu74Phe) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L74F (p.Leu74Phe) variant details
- p.Leu74Phe
- TOPMed rs1184510592
- gnomAD rs1184510592
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 17.70
- PolyPhen-2 0.35
- SIFT 0.67
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available