L225P (p.Leu225Pro) variant of ABCC8 (Q09428)
L225P (p.Leu225Pro) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neonatal diabetes mellitus; Permanent neonatal diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
L225P (p.Leu225Pro) variant details
- p.Leu225Pro
- rs1048095
- ClinGen CA341695
- ClinVar RCV000020291
- ClinVar RCV002051791
- Pathogenic/Likely pathogenic
- Neonatal diabetes mellitus; Permanent neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- AlphaMissense 0.79
- MetaLR 0.70
- MetaSVM 0.58
- PolyPhen-2 0.70
- SIFT 0.16
- EVE 0.62
- ClinVar: Pathogenic/Likely pathogenic (Neonatal diabetes mellitus; Permanent neonatal diabetes mellitus)
- EBI: Pathogenic (in PNDM3)
- UniProt: Pathogenic (in PNDM3)
- Structural context available
- Cited in: Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite… (PMID 17668386)
- Cited in: A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. (PMID 16613899)