M113I (p.Met113Ile) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
M113I (p.Met113Ile) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance/uncertain risk allele in the context of not provided; Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
M113I (p.Met113Ile) variant details
- p.Met113Ile
- rs764079701
- ClinGen CA8519113
- ClinVar RCV000732964
- ClinVar RCV002465765
- Uncertain significance/Uncertain risk allele
- not provided; Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Uncertain significance/Uncertain risk allele (not provided; Maturity-onset diabetes of the young)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)