N24K (p.Asn24Lys) variant of ABCC8 (Q09428)
N24K (p.Asn24Lys) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital isolated hyperinsulinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
N24K (p.Asn24Lys) variant details
- p.Asn24Lys
- rs771075821
- ClinGen CA248475
- ClinVar RCV000201893
- ClinVar RCV003321541
- Uncertain significance
- Congenital isolated hyperinsulinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.86
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital isolated hyperinsulinism)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available