V47L (p.Val47Leu) variant of SGCD (Delta-sarcoglycan)
V47L (p.Val47Leu) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V47L (p.Val47Leu) variant details
- p.Val47Leu
- rs556208970
- 1000Genomes rs556208970
- ExAC rs556208970
- TOPMed rs556208970
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.82
- MetaSVM 0.67
- PolyPhen-2 0.94
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available