S1382R (p.Ser1382Arg) variant of ABCC8 (Q09428)
S1382R (p.Ser1382Arg) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary hyperinsulinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
S1382R (p.Ser1382Arg) variant details
- p.Ser1382Arg
- rs886039877
- Ensembl rs886039877
- ClinGen CA10588932
- ClinVar RCV000256388
- Likely pathogenic
- Hereditary hyperinsulinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.72
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.62
- ClinVar: Likely pathogenic (Hereditary hyperinsulinism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)