L89F (p.Leu89Phe) variant of SGCA (Alpha-sarcoglycan)
L89F (p.Leu89Phe) 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 0.81 / 1. The record also includes population frequency data and structural context.
L89F (p.Leu89Phe) variant details
- p.Leu89Phe
- rs773161308
- ClinGen CA400177739
- ClinVar RCV000816168
- ClinVar RCV002235336
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.84
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available