H38R (p.His38Arg) variant of SGCA (Alpha-sarcoglycan)
H38R (p.His38Arg) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Abnormality of the musculature. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
H38R (p.His38Arg) variant details
- p.His38Arg
- rs2144493345
- ClinGen CA400176722
- ClinVar RCV001814459
- Ensembl rs2144493345
- Likely pathogenic
- Abnormality of the musculature
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- AlphaMissense 0.22
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.62
- ClinVar: Likely pathogenic (Abnormality of the musculature)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available