A113V (p.Ala113Val) variant of ABCC8 (Q09428)
A113V (p.Ala113Val) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary hyperinsulinism; Type 2 diabetes mellitus; Diabetes mellitus, transie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A113V (p.Ala113Val) variant details
- p.Ala113Val
- rs2133711315
- ClinGen CA379784330
- cosmic curated COSV56847
- ClinVar RCV001817966
- Conflicting interpretations
- Hereditary hyperinsulinism; Type 2 diabetes mellitus; Diabetes mellitus, transie
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.75
- CADD 24.80
- PolyPhen-2 0.87
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hereditary hyperinsulinism; Type 2 diabetes mellitus; Diabetes m)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)