V607M (p.Val607Met) variant of ABCC8 (Q09428)
V607M (p.Val607Met) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary hyperinsulinism; Leucine-induced hypoglycemia; Diabetes mellitus, per. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V607M (p.Val607Met) variant details
- p.Val607Met
- rs377405677
- ClinGen CA5903419
- ClinVar RCV003151472
- ClinVar RCV005047440
- Likely pathogenic
- Hereditary hyperinsulinism; Leucine-induced hypoglycemia; Diabetes mellitus, per
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.78
- CADD 24.30
- PolyPhen-2 0.56
- SIFT 0.08
- ClinVar: Likely pathogenic (Hereditary hyperinsulinism; Leucine-induced hypoglycemia; Diabet)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)