L173P (p.Leu173Pro) variant of SGCA (Alpha-sarcoglycan)
L173P (p.Leu173Pro) 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 Autosomal recessive limb-girdle muscular dystrophy; Autosomal recessive limb-gir. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L173P (p.Leu173Pro) variant details
- p.Leu173Pro
- rs143962150
- ClinGen CA8643817
- ClinVar RCV000284145
- ClinVar RCV001194148
- Pathogenic/Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy; Autosomal recessive limb-gir
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.85
- CADD 28.30
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy; Autosomal re)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)
- 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)