I1423V (p.Ile1423Val) variant of ABCC8 (Q09428)
I1423V (p.Ile1423Val) 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; Leucine-induced hypoglycemia; Hyperins. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
I1423V (p.Ile1423Val) variant details
- p.Ile1423Val
- rs748831440
- ClinGen CA5902523
- ClinVar RCV001822393
- ClinVar RCV002482366
- Uncertain significance
- Diabetes mellitus, transient neonatal, 2; Leucine-induced hypoglycemia; Hyperins
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.70
- CADD 26.60
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Uncertain significance (Diabetes mellitus, transient neonatal, 2; Leucine-induced hypogl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)