L28L (p.Leu28Leu) variant of SGCA (Alpha-sarcoglycan)
L28L (p.Leu28Leu) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L28L (p.Leu28Leu) variant details
- p.Leu28Leu
- rs753896716
- gnomAD 17-50167412-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 8.63
- Population evidence available
- Structural context available
- Literature evidence available