P1198L (p.Pro1198Leu) variant of ABCC8 (Q09428)
P1198L (p.Pro1198Leu) 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; Permanent neonatal diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
P1198L (p.Pro1198Leu) variant details
- p.Pro1198Leu
- rs1554909277
- ClinGen CA379796687
- ClinVar RCV000500160
- ClinVar RCV002051860
- Pathogenic/Likely pathogenic
- not provided; Neonatal diabetes mellitus; Permanent neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- AlphaMissense 0.48
- MetaLR 0.88
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic/Likely pathogenic (not provided; Neonatal diabetes mellitus; Permanent neonatal dia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)