V32A (p.Val32Ala) variant of SGCA (Alpha-sarcoglycan)
V32A (p.Val32Ala) 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 type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
V32A (p.Val32Ala) variant details
- p.Val32Ala
- rs1017592342
- ClinGen CA291535997
- cosmic curated COSV10608
- ClinVar RCV001963134
- Pathogenic/Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.67
- CADD 23.50
- PolyPhen-2 0.82
- SIFT 0.36
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available