V173L (p.Val173Leu) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
V173L (p.Val173Leu) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Renal cysts and diabetes syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V173L (p.Val173Leu) variant details
- p.Val173Leu
- rs925595786
- ClinGen CA398751132
- ClinVar RCV000787184
- TOPMed rs925595786
- Likely pathogenic
- Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 24.10
- PolyPhen-2 0.93
- SIFT 0.12
- ClinVar: Likely pathogenic (Renal cysts and diabetes syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)