T12A (p.Thr12Ala) variant of SGCD (Delta-sarcoglycan)
T12A (p.Thr12Ala) 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 structural context.
T12A (p.Thr12Ala) variant details
- p.Thr12Ala
- TOPMed rs1303645291
- gnomAD rs1303645291
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- ESM-1b 0.00
- AlphaMissense 0.06
- Structural context available