A50T (p.Ala50Thr) variant of SGCD (Delta-sarcoglycan)
A50T (p.Ala50Thr) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- cosmic curated COSV61904
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- ESM-1b 0.74
- AlphaMissense 0.61
- Structural context available