P47S (p.Pro47Ser) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
P47S (p.Pro47Ser) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P47S (p.Pro47Ser) variant details
- p.Pro47Ser
- ExAC rs767558546
- gnomAD rs767558546
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 23.00
- PolyPhen-2 0.24
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available