E4K (p.Glu4Lys) variant of SGCD (Delta-sarcoglycan)
E4K (p.Glu4Lys) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- cosmic curated COSV61912
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- ESM-1b 1.00
- AlphaMissense 0.38
- Structural context available