G28S (p.Gly28Ser) variant of SGCD (Delta-sarcoglycan)
G28S (p.Gly28Ser) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data and structural context.
G28S (p.Gly28Ser) variant details
- p.Gly28Ser
- rs773399590
- ClinGen CA3530482
- NCI-TCGA Cosmic COSV6190
- cosmic curated COSV61905
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available