R107Q (p.Arg107Gln) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
R107Q (p.Arg107Gln) 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 0.81 / 1. The record also includes population frequency data and structural context.
R107Q (p.Arg107Gln) variant details
- p.Arg107Gln
- rs970826378
- gnomAD rs970826378
- ClinGen CA290293048
- ClinVar RCV003680791
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available