T27M (p.Thr27Met) variant of SGCA (Alpha-sarcoglycan)
T27M (p.Thr27Met) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Sarcoglycanopathy; not provided; Autosomal recessive limb-girdle muscular dystro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T27M (p.Thr27Met) variant details
- p.Thr27Met
- rs565069721
- ClinGen CA8643689
- cosmic curated COSV56248
- ClinVar RCV000328161
- Conflicting interpretations
- Sarcoglycanopathy; not provided; Autosomal recessive limb-girdle muscular dystro
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.41
- CADD 20.20
- PolyPhen-2 0.08
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Sarcoglycanopathy; not provided; Autosomal recessive limb-girdle)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PJL population (allele frequency 0.021)
- Structural context available