V242A (p.Val242Ala) variant of SGCA (Alpha-sarcoglycan)
V242A (p.Val242Ala) 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 type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
V242A (p.Val242Ala) variant details
- p.Val242Ala
- rs1384158714
- ClinGen CA400181029
- ClinVar RCV003472667
- UniProt VAR 010420
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.83
- CADD 24.60
- PolyPhen-2 0.13
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)