G716V (p.Gly716Val) variant of ABCC8 (Q09428)
G716V (p.Gly716Val) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyperinsulinemic hypoglycemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G716V (p.Gly716Val) variant details
- p.Gly716Val
- rs72559723
- ClinGen CA220124
- ClinVar RCV000009655
- ClinVar RCV000077845
- Pathogenic
- Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.64
- ClinVar: Pathogenic (Hyperinsulinemic hypoglycemia, familial, 1)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Structural context available
- Cited in: Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent… (PMID 8751851)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)