D310N (p.Asp310Asn) variant of ABCC8 (Q09428)
D310N (p.Asp310Asn) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hyperinsulinism; Type 2 diabetes mellitus; Hereditary hyperinsulinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
D310N (p.Asp310Asn) variant details
- p.Asp310Asn
- rs769569410
- ClinGen CA5903724
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10021
- Likely pathogenic
- Familial hyperinsulinism; Type 2 diabetes mellitus; Hereditary hyperinsulinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.83
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Likely pathogenic (Familial hyperinsulinism; Type 2 diabetes mellitus; Hereditary h)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). (PMID 16429405)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)