V242F (p.Val242Phe) variant of SGCA (Alpha-sarcoglycan)
V242F (p.Val242Phe) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive limb-girdle muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
V242F (p.Val242Phe) variant details
- p.Val242Phe
- rs200166783
- ClinGen CA400181014
- ClinVar RCV000553098
- ESP rs200166783
- Pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.73
- CADD 22.90
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available