G15D (p.Gly15Asp) variant of SGCD (Delta-sarcoglycan)
G15D (p.Gly15Asp) 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 type 2F. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
G15D (p.Gly15Asp) variant details
- p.Gly15Asp
- rs2481652598
- ClinGen CA362007591
- ClinVar RCV002642645
- cosmic curated COSV10817
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2F
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.09
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2F)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available