V25L (p.Val25Leu) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
V25L (p.Val25Leu) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Maturity-onset diabetes of the young; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V25L (p.Val25Leu) variant details
- p.Val25Leu
- rs139107479
- ClinGen CA214365
- ClinVar RCV000030533
- ClinVar RCV000345835
- Conflicting interpretations
- not specified; Maturity-onset diabetes of the young; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 19.40
- PolyPhen-2 0.22
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (not specified; Maturity-onset diabetes of the young; not provide)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GIH population (allele frequency 0.065)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)