A53T (p.Ala53Thr) variant of SGCA (Alpha-sarcoglycan)
A53T (p.Ala53Thr) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal recessive limb-girdle muscular dystrophy; not provided; Autosomal rece. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A53T (p.Ala53Thr) variant details
- p.Ala53Thr
- rs60407644
- ClinGen CA8643703
- cosmic curated COSV56248
- ClinVar RCV000298182
- Conflicting interpretations
- Autosomal recessive limb-girdle muscular dystrophy; not provided; Autosomal rece
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.62
- AlphaMissense 0.07
- MetaLR 0.80
- MetaSVM 0.26
- CADD 27.80
- PolyPhen-2 0.96
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive limb-girdle muscular dystrophy; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available