L40R (p.Leu40Arg) variant of ABCC8 (Q09428)
L40R (p.Leu40Arg) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Transitory neonatal diabetes mellitus; Maturity-onset diabetes of the young; not. 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.
L40R (p.Leu40Arg) variant details
- p.Leu40Arg
- rs1554949242
- ClinGen CA379789899
- ClinVar RCV000673351
- ClinVar RCV001816681
- Conflicting interpretations
- Transitory neonatal diabetes mellitus; Maturity-onset diabetes of the young; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Transitory neonatal diabetes mellitus; Maturity-onset diabetes o)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)