Y6C (p.Tyr6Cys) variant of SGCD (Delta-sarcoglycan)
Y6C (p.Tyr6Cys) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Y6C (p.Tyr6Cys) variant details
- p.Tyr6Cys
- gnomAD rs1171173178
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- ESM-1b 1.00
- AlphaMissense 0.09
- Population evidence available
- Structural context available