V24D (p.Val24Asp) variant of SGCD (Delta-sarcoglycan)
V24D (p.Val24Asp) in SGCD (Delta-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V24D (p.Val24Asp) variant details
- p.Val24Asp
- gnomAD 5-156344556-AGGTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available