P205H (p.Pro205His) variant of SGCA (Alpha-sarcoglycan)
P205H (p.Pro205His) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive limb-girdle muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P205H (p.Pro205His) variant details
- p.Pro205His
- rs757481230
- ClinGen CA501043
- ClinVar RCV000442753
- ClinVar RCV000675091
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.84
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)