M115V (p.Met115Val) variant of ABCC8 (Q09428)
M115V (p.Met115Val) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Hyperinsulinemic hypoglycemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
M115V (p.Met115Val) variant details
- p.Met115Val
- rs146695489
- ClinGen CA5903905
- ClinVar RCV001105013
- ClinVar RCV001869139
- Conflicting interpretations
- not provided; not specified; Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.71
- AlphaMissense 0.17
- MetaLR 0.71
- MetaSVM 0.50
- CADD 7.61
- PolyPhen-2 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Hyperinsulinemic hypoglycemia, fami)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.0021)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)