R836Q (p.Arg836Gln) variant of ABCC8 (Q09428)
R836Q (p.Arg836Gln) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperinsulinemic hypoglycemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R836Q (p.Arg836Gln) variant details
- p.Arg836Gln
- rs765626111
- NCI-TCGA Cosmic COSV5685
- cosmic curated COSV56856
- ExAC rs765626111
- Likely pathogenic
- Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.95
- CADD 29.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Hyperinsulinemic hypoglycemia, familial, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available