G144S (p.Gly144Ser) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
G144S (p.Gly144Ser) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G144S (p.Gly144Ser) variant details
- p.Gly144Ser
- rs374126219
- ESP rs374126219
- ExAC rs374126219
- TOPMed rs374126219
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)