I1511T (p.Ile1511Thr) variant of ABCC8 (Q09428)
I1511T (p.Ile1511Thr) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hyperinsulinism; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
I1511T (p.Ile1511Thr) variant details
- p.Ile1511Thr
- rs2133394768
- ClinGen CA379782757
- ClinVar RCV003062338
- ClinVar RCV003227081
- Pathogenic
- Familial hyperinsulinism; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.76
- PolyPhen-2 0.62
- SIFT 0.00
- EVE 0.54
- ClinVar: Pathogenic (Familial hyperinsulinism; not provided)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)