T1515M (p.Thr1515Met) variant of ABCC8 (Q09428)
T1515M (p.Thr1515Met) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Maturity-onset diabetes of the young, type 12; Type 2 diabetes mellitus; Diabete. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
T1515M (p.Thr1515Met) variant details
- p.Thr1515Met
- rs769989185
- ClinGen CA5902453
- ClinVar RCV002004428
- ClinVar RCV002290835
- Pathogenic/Likely pathogenic
- Maturity-onset diabetes of the young, type 12; Type 2 diabetes mellitus; Diabete
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.89
- CADD 33.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Maturity-onset diabetes of the young, type 12; Type 2 diabetes m)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)