A50V (p.Ala50Val) variant of SGCD (Delta-sarcoglycan)
A50V (p.Ala50Val) 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 structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- TOPMed rs1418644674
- gnomAD rs1418644674
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- ESM-1b 0.47
- AlphaMissense 0.82
- Structural context available