P118S (p.Pro118Ser) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
P118S (p.Pro118Ser) 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 0.73 / 1. The record also includes population frequency data and structural context.
P118S (p.Pro118Ser) variant details
- p.Pro118Ser
- ExAC rs745356532
- gnomAD rs745356532
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 23.00
- PolyPhen-2 0.14
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available