D1132N (p.Asp1132Asn) variant of ABCC8 (Q09428)
D1132N (p.Asp1132Asn) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Familial hyperinsulinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
D1132N (p.Asp1132Asn) variant details
- p.Asp1132Asn
- cosmic curated COSV10459
- TOPMed rs1323111588
- gnomAD rs1323111588
- Likely pathogenic
- Familial hyperinsulinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.89
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial hyperinsulinism)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available