P56L (p.Pro56Leu) variant of SGCA (Alpha-sarcoglycan)
P56L (p.Pro56Leu) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P56L (p.Pro56Leu) variant details
- p.Pro56Leu
- ExAC rs761732772
- gnomAD rs761732772
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.28
- CADD 8.93
- PolyPhen-2 0.12
- SIFT 0.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available