P9L (p.Pro9Leu) variant of SGCA (Alpha-sarcoglycan)
P9L (p.Pro9Leu) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- gnomAD rs1460300052
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.17
- CADD 1.18
- PolyPhen-2 0.00
- SIFT 0.85
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available