N32K (p.Asn32Lys) variant of ABCC8 (Q09428)
N32K (p.Asn32Lys) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hyperinsulinism; Type 2 diabetes mellitus; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
N32K (p.Asn32Lys) variant details
- p.Asn32Lys
- rs2496930134
- ClinGen CA379790011
- ClinVar RCV003463382
- ClinVar RCV003553964
- Pathogenic
- Familial hyperinsulinism; Type 2 diabetes mellitus; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.65
- CADD 23.40
- PolyPhen-2 0.29
- SIFT 0.07
- ClinVar: Pathogenic (Familial hyperinsulinism; Type 2 diabetes mellitus; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)