H1537R (p.His1537Arg) variant of ABCC8 (Q09428)
H1537R (p.His1537Arg) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neonatal diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
H1537R (p.His1537Arg) variant details
- p.His1537Arg
- rs2133390317
- ClinGen CA379781544
- ClinVar RCV002052027
- Ensembl rs2133390317
- Likely pathogenic
- Neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- AlphaMissense 0.99
- MetaLR 0.83
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Likely pathogenic (Neonatal diabetes mellitus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available