T44M (p.Thr44Met) variant of SGCA (Alpha-sarcoglycan)
T44M (p.Thr44Met) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive limb-girdle muscular dystrophy type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
T44M (p.Thr44Met) variant details
- p.Thr44Met
- rs770516658
- ClinGen CA8643698
- ClinVar RCV001340209
- ExAC rs770516658
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.35
- CADD 7.45
- PolyPhen-2 0.37
- SIFT 0.21
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available