S18R (p.Ser18Arg) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
S18R (p.Ser18Arg) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S18R (p.Ser18Arg) variant details
- p.Ser18Arg
- TOPMed rs2034125548
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 22.90
- PolyPhen-2 0.17
- SIFT 0.18
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available