P118T (p.Pro118Thr) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
P118T (p.Pro118Thr) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P118T (p.Pro118Thr) variant details
- p.Pro118Thr
- ExAC rs745356532
- gnomAD rs745356532
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 26.30
- PolyPhen-2 0.75
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available