I124T (p.Ile124Thr) variant of SGCA (Alpha-sarcoglycan)
I124T (p.Ile124Thr) 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 not provided; Autosomal recessive limb-girdle muscular dystrophy type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
I124T (p.Ile124Thr) variant details
- p.Ile124Thr
- rs768814872
- ClinGen CA199048
- cosmic curated COSV10507
- ClinVar RCV000169036
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.79
- CADD 25.60
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Mutations in the sarcoglycan genes in patients with myopathy. (PMID 9032047)
- Cited in: Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). (PMID 9192266)