H65P (p.His65Pro) variant of SGCA (Alpha-sarcoglycan)
H65P (p.His65Pro) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive limb-girdle muscular dystrophy type 2D. The record also includes structural context.
H65P (p.His65Pro) variant details
- p.His65Pro
- rs2509118693
- ClinGen CA400177291
- ClinVar RCV003486338
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available