R598Q (p.Arg598Gln) variant of ABCC8 (Q09428)
R598Q (p.Arg598Gln) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Atrial septal defect; Macrocephaly; Gastroesophageal reflux. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R598Q (p.Arg598Gln) variant details
- p.Arg598Gln
- rs1344172059
- ClinGen CA379816909
- NCI-TCGA Cosmic COSV5685
- ClinVar RCV000626669
- Likely pathogenic
- Atrial septal defect; Macrocephaly; Gastroesophageal reflux
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.72
- CADD 23.30
- PolyPhen-2 0.06
- SIFT 0.06
- ClinVar: Likely pathogenic (Atrial septal defect; Macrocephaly; Gastroesophageal reflux)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available