M1T (p.Met1Thr) variant of ABCC8 (Q09428)
M1T (p.Met1Thr) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2496931463
- ClinGen CA379790501
- ClinVar RCV003681280
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available