A104V (p.Ala104Val) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
A104V (p.Ala104Val) 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 Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A104V (p.Ala104Val) variant details
- p.Ala104Val
- rs2511849835
- ClinGen CA398753113
- ClinVar RCV002320474
- Uncertain significance
- Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.10
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)