I1424V (p.Ile1424Val) variant of ABCC8 (Q09428)
I1424V (p.Ile1424Val) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
I1424V (p.Ile1424Val) variant details
- p.Ile1424Val
- rs80356653
- ClinGen CA340868
- ClinVar RCV000009672
- ClinVar RCV001089458
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.77
- CADD 26.70
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Pathogenic (in PNDM3)
- UniProt: Pathogenic (in PNDM3)
- Population evidence available
- Structural context available
- Cited in: Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. (PMID 16885549)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)