F37C (p.Phe37Cys) variant of SGCD (Delta-sarcoglycan)
F37C (p.Phe37Cys) 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 0.85 / 1. The record also includes population frequency data and structural context.
F37C (p.Phe37Cys) variant details
- p.Phe37Cys
- rs1052197017
- ClinGen CA130594221
- ClinVar RCV002224262
- gnomAD rs1052197017
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- ESM-1b 1.00
- AlphaMissense 0.78
- MetaLR 0.91
- MetaSVM 0.99
- 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