I49V (p.Ile49Val) variant of ABCC8 (Q09428)
I49V (p.Ile49Val) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Diabetes mellitus, permanent neonatal 3; not provided; Transitory neonatal diabe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
I49V (p.Ile49Val) variant details
- p.Ile49Val
- rs1554949196
- ClinGen CA379789751
- ClinVar RCV002254146
- ClinVar RCV002254147
- Conflicting interpretations
- Diabetes mellitus, permanent neonatal 3; not provided; Transitory neonatal diabe
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.58
- AlphaMissense 0.16
- MetaLR 0.85
- MetaSVM 0.72
- CADD 24.50
- PolyPhen-2 0.59
- ClinVar: Conflicting classifications of pathogenicity (Diabetes mellitus, permanent neonatal 3; not provided; Transitor)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)