L66H (p.Leu66His) variant of SGCA (Alpha-sarcoglycan)
L66H (p.Leu66His) 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 0.79 / 1. The record also includes population frequency data and structural context.
L66H (p.Leu66His) variant details
- p.Leu66His
- rs767928766
- ClinGen CA501057
- ClinVar RCV000384383
- ClinVar RCV003137892
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.89
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available