E101Q (p.Glu101Gln) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E101Q (p.Glu101Gln) 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 0.71 / 1. The record also includes population frequency data and structural context.
E101Q (p.Glu101Gln) variant details
- p.Glu101Gln
- rs121918671
- ClinGen CA8519119
- ClinVar RCV002895553
- ExAC rs121918671
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- AlphaMissense 0.23
- MetaLR 0.94
- MetaSVM 0.98
- CADD 25.60
- PolyPhen-2 0.69
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available