P19H (p.Pro19His) variant of SGCD (Delta-sarcoglycan)
P19H (p.Pro19His) in SGCD (Delta-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P19H (p.Pro19His) variant details
- p.Pro19His
- gnomAD 5-156344538-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available