Y62H (p.Tyr62His) variant of SGCA (Alpha-sarcoglycan)
Y62H (p.Tyr62His) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Abnormality of the musculature. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
Y62H (p.Tyr62His) variant details
- p.Tyr62His
- rs2144494074
- ClinGen CA400177224
- ClinVar RCV001814397
- UniProt VAR 010406
- Likely pathogenic
- Abnormality of the musculature
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- AlphaMissense 0.83
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.22
- ClinVar: Likely pathogenic (Abnormality of the musculature)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Structural context available
- Cited in: Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. (PMID 7663524)
- Cited in: Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? (PMID 18996010)