Q24R (p.Gln24Arg) variant of SGCA (Alpha-sarcoglycan)
Q24R (p.Gln24Arg) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- rs2509117878
- ClinGen CA2576316717
- ClinVar RCV003472665
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available