P1413L (p.Pro1413Leu) variant of ABCC8 (Q09428)
P1413L (p.Pro1413Leu) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Diabetes mellitus, permanent neonatal 3; Hyperinsulinemic hypoglycemia, familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P1413L (p.Pro1413Leu) variant details
- p.Pro1413Leu
- rs1436692401
- ClinGen CA379786862
- ClinVar RCV003463196
- ClinVar RCV003553959
- Pathogenic/Likely pathogenic
- Diabetes mellitus, permanent neonatal 3; Hyperinsulinemic hypoglycemia, familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.85
- CADD 28.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Diabetes mellitus, permanent neonatal 3; Hyperinsulinemic hypogl)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)