M442T (p.Met442Thr) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
M442T (p.Met442Thr) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic/likely risk allele in the context of Maturity-onset diabetes of the young; Renal cysts and diabetes syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
M442T (p.Met442Thr) variant details
- p.Met442Thr
- rs193922482
- ClinGen CA214346
- ClinVar RCV000030520
- ClinVar RCV002464083
- Likely pathogenic/Likely risk allele
- Maturity-onset diabetes of the young; Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 26.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic/Likely risk allele (Maturity-onset diabetes of the young; Renal cysts and diabetes s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)