T64S (p.Thr64Ser) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
T64S (p.Thr64Ser) 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 Renal cysts and diabetes syndrome; Nonpapillary renal cell carcinoma; Type 2 dia. 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.
T64S (p.Thr64Ser) variant details
- p.Thr64Ser
- TOPMed rs1213958093
- gnomAD rs1213958093
- Uncertain significance
- Renal cysts and diabetes syndrome; Nonpapillary renal cell carcinoma; Type 2 dia
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- CADD 22.40
- PolyPhen-2 0.28
- SIFT 0.51
- ClinVar: Uncertain significance (Renal cysts and diabetes syndrome; Nonpapillary renal cell carci)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available