F132L (p.Phe132Leu) variant of ABCC8 (Q09428)
F132L (p.Phe132Leu) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Neonatal diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
F132L (p.Phe132Leu) variant details
- p.Phe132Leu
- rs80356637
- ClinGen CA120110
- ClinVar RCV000009670
- ClinVar RCV000020286
- Pathogenic/Likely pathogenic
- not provided; Neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 0.98
- PolyPhen-2 0.88
- SIFT 0.10
- EVE 0.49
- ClinVar: Pathogenic/Likely pathogenic (not provided; Neonatal diabetes mellitus)
- EBI: Pathogenic (in PNDM3)
- UniProt: Pathogenic (in PNDM3)
- Structural context available
- Cited in: A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. (PMID 16613899)
- Cited in: Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite… (PMID 17668386)