V84I (p.Val84Ile) variant of ABCC8 (Q09428)
V84I (p.Val84Ile) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Monogenic diabetes; not provided; Hyperinsulinemic hypoglycemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V84I (p.Val84Ile) variant details
- p.Val84Ile
- rs775776658
- ClinGen CA5903942
- NCI-TCGA Cosmic COSV5685
- cosmic curated COSV56856
- Conflicting interpretations
- Monogenic diabetes; not provided; Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.55
- CADD 19.10
- PolyPhen-2 0.05
- SIFT 0.20
- ClinVar: Conflicting classifications of pathogenicity (Monogenic diabetes; not provided; Hyperinsulinemic hypoglycemia,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)