L31P (p.Leu31Pro) variant of SGCA (Alpha-sarcoglycan)
L31P (p.Leu31Pro) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive limb-girdle muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- rs903823830
- ClinGen CA291535993
- ClinVar RCV000665054
- UniProt VAR 010403
- Pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.59
- CADD 19.40
- PolyPhen-2 0.90
- SIFT 0.18
- ClinVar: Pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available
- Cited in: Mutations in the sarcoglycan genes in patients with myopathy. (PMID 9032047)
- Cited in: Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? (PMID 18996010)