G19E (p.Gly19Glu) variant of SGCA (Alpha-sarcoglycan)
G19E (p.Gly19Glu) 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 0.42 / 1. The record also includes population frequency data and structural context.
G19E (p.Gly19Glu) variant details
- p.Gly19Glu
- rs774107033
- ClinGen CA8643684
- ClinVar RCV002899361
- ExAC rs774107033
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.43
- CADD 16.30
- PolyPhen-2 0.30
- SIFT 0.30
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available