V61I (p.Val61Ile) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
V61I (p.Val61Ile) 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 HNF1B-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
V61I (p.Val61Ile) variant details
- p.Val61Ile
- ExAC rs754482958
- TOPMed rs754482958
- gnomAD rs754482958
- Uncertain significance
- HNF1B-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 21.70
- PolyPhen-2 0.11
- SIFT 0.45
- ClinVar: Uncertain significance (HNF1B-related disorder)
- EBI: Variant of uncertain significance (in RCAD)
- UniProt: Uncertain significance (in RCAD)
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available