I49F (p.Ile49Phe) variant of ABCC8 (Q09428)
I49F (p.Ile49Phe) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neonatal diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
I49F (p.Ile49Phe) variant details
- p.Ile49Phe
- rs1554949196
- ClinGen CA379789749
- ClinVar RCV000671753
- ClinVar RCV002051878
- Likely pathogenic
- Neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- AlphaMissense 0.16
- MetaLR 0.85
- MetaSVM 0.72
- PolyPhen-2 0.59
- SIFT 0.43
- EVE 0.63
- ClinVar: Likely pathogenic (Neonatal diabetes mellitus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)