Y22C (p.Tyr22Cys) variant of SGCD (Delta-sarcoglycan)
Y22C (p.Tyr22Cys) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
Y22C (p.Tyr22Cys) variant details
- p.Tyr22Cys
- 1000Genomes rs776107667
- ExAC rs776107667
- TOPMed rs776107667
- gnomAD rs776107667
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- ESM-1b 1.00
- AlphaMissense 0.25
- Structural context available