M1V (p.Met1Val) variant of SGCA (Alpha-sarcoglycan)
M1V (p.Met1Val) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive limb-girdle muscular dystrophy; Autosomal recessive limb-gir. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2509113878
- ClinGen CA400210471
- ClinVar RCV002281872
- ClinVar RCV003621621
- Pathogenic/Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy; Autosomal recessive limb-gir
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy; Autosomal re)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available