I60L (p.Ile60Leu) variant of SGCA (Alpha-sarcoglycan)
I60L (p.Ile60Leu) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
I60L (p.Ile60Leu) variant details
- p.Ile60Leu
- TOPMed rs1446631821
- gnomAD rs1446631821
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.32
- CADD 6.85
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available