P70S (p.Pro70Ser) variant of SGCA (Alpha-sarcoglycan)
P70S (p.Pro70Ser) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive limb-girdle muscular dystrophy type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
P70S (p.Pro70Ser) variant details
- p.Pro70Ser
- rs1348067599
- ClinGen CA400177393
- ClinVar RCV001884413
- gnomAD rs1348067599
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.95
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available