L213R (p.Leu213Arg) variant of ABCC8 (Q09428)
L213R (p.Leu213Arg) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Diabetes mellitus, permanent neonatal 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
L213R (p.Leu213Arg) variant details
- p.Leu213Arg
- rs80356642
- ClinGen CA340866
- ClinVar RCV000009671
- ClinVar RCV001089457
- Pathogenic
- Diabetes mellitus, permanent neonatal 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- AlphaMissense 0.61
- MetaLR 0.71
- MetaSVM 0.47
- PolyPhen-2 0.21
- SIFT 0.21
- EVE 0.60
- ClinVar: Pathogenic (Diabetes mellitus, permanent neonatal 3)
- EBI: Pathogenic (in PNDM3)
- UniProt: Pathogenic (in PNDM3)
- Structural context available
- Cited in: Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. (PMID 16885549)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)