Q20K (p.Gln20Lys) variant of SGCD (Delta-sarcoglycan)
Q20K (p.Gln20Lys) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q20K (p.Gln20Lys) variant details
- p.Gln20Lys
- ExAC rs771463833
- TOPMed rs771463833
- gnomAD rs771463833
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- Population evidence available
- Structural context available