R30G (p.Arg30Gly) variant of SGCD (Delta-sarcoglycan)
R30G (p.Arg30Gly) in SGCD (Delta-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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
R30G (p.Arg30Gly) variant details
- p.Arg30Gly
- rs202223676
- ClinGen CA200046
- cosmic curated COSV61905
- ClinVar RCV000172778
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Benign
- UniProt: Benign
- Structural context available