V17A (p.Val17Ala) variant of ABCC8 (Q09428)
V17A (p.Val17Ala) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hyperinsulinemic hypoglycemia, familial, 1; Type 2 diabetes mellitus; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V17A (p.Val17Ala) variant details
- p.Val17Ala
- rs764950519
- ClinGen CA5903995
- ClinVar RCV001817905
- ClinVar RCV003321876
- Conflicting interpretations
- Hyperinsulinemic hypoglycemia, familial, 1; Type 2 diabetes mellitus; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.52
- CADD 28.60
- PolyPhen-2 0.19
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hyperinsulinemic hypoglycemia, familial, 1; Type 2 diabetes mell)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)