L3V (p.Leu3Val) variant of ABCC8 (Q09428)
L3V (p.Leu3Val) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- TOPMed rs1206338992
- gnomAD rs1206338992
- Uncertain significance
- Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.45
- CADD 20.80
- PolyPhen-2 0.40
- SIFT 0.05
- ClinVar: Uncertain significance (Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypog)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available