P47T (p.Pro47Thr) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
P47T (p.Pro47Thr) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P47T (p.Pro47Thr) variant details
- p.Pro47Thr
- ExAC rs767558546
- gnomAD rs767558546
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 22.90
- PolyPhen-2 0.38
- SIFT 0.13
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available