G40R (p.Gly40Arg) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
G40R (p.Gly40Arg) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G40R (p.Gly40Arg) variant details
- p.Gly40Arg
- rs753701914
- ExAC rs753701914
- gnomAD rs753701914
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available