A53S (p.Ala53Ser) variant of SGCA (Alpha-sarcoglycan)
A53S (p.Ala53Ser) 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 0.59 / 1. The record also includes structural context.
A53S (p.Ala53Ser) variant details
- p.Ala53Ser
- rs60407644
- ClinGen CA400177022
- ClinVar RCV003136639
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- AlphaMissense 0.07
- MetaLR 0.80
- MetaSVM 0.26
- PolyPhen-2 0.96
- SIFT 0.07
- MutPred 0.79
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available