P60R (p.Pro60Arg) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
P60R (p.Pro60Arg) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. 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.
P60R (p.Pro60Arg) variant details
- p.Pro60Arg
- ExAC rs778234238
- TOPMed rs778234238
- gnomAD rs778234238
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 27.70
- PolyPhen-2 0.47
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available