L582V (p.Leu582Val) variant of ABCC8 (Q09428)
L582V (p.Leu582Val) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
L582V (p.Leu582Val) variant details
- p.Leu582Val
- rs137852674
- ClinGen CA120114
- ClinVar RCV000009675
- ClinVar RCV000009676
- Pathogenic
- Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- AlphaMissense 0.83
- MetaLR 0.85
- MetaSVM 0.83
- PolyPhen-2 0.99
- SIFT 0.13
- EVE 0.70
- ClinVar: Pathogenic (Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellit)
- EBI: Pathogenic (in TNDM2)
- UniProt: Pathogenic (in TNDM2)
- Structural context available
- Cited in: Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. (PMID 16885549)
- Cited in: Transient neonatal diabetes due to activating mutation in the ABCC8 gene encoding SUR1. (PMID 20092027)