A107V (p.Ala107Val) variant of SGCA (Alpha-sarcoglycan)
A107V (p.Ala107Val) 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 0.72 / 1. The record also includes population frequency data and structural context.
A107V (p.Ala107Val) variant details
- p.Ala107Val
- rs186669379
- ClinGen CA245046
- ClinVar RCV000178022
- ClinVar RCV000344242
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.86
- CADD 23.40
- PolyPhen-2 0.65
- SIFT 0.11
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available