G68R (p.Gly68Arg) variant of SGCA (Alpha-sarcoglycan)
G68R (p.Gly68Arg) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar 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 0.80 / 1. The record also includes population frequency data and structural context.
G68R (p.Gly68Arg) variant details
- p.Gly68Arg
- NCI-TCGA Cosmic COSV5624
- cosmic curated COSV56248
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.81
- CADD 28.30
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- UniProt: Uncertain significance (in LGMDR3)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available