A50D (p.Ala50Asp) variant of SGCD (Delta-sarcoglycan)
A50D (p.Ala50Asp) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
A50D (p.Ala50Asp) variant details
- p.Ala50Asp
- TOPMed rs1418644674
- gnomAD rs1418644674
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- Structural context available