R120G (p.Arg120Gly) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
R120G (p.Arg120Gly) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R120G (p.Arg120Gly) variant details
- p.Arg120Gly
- gnomAD rs2033932710
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available