L10P (p.Leu10Pro) variant of SGCA (Alpha-sarcoglycan)
L10P (p.Leu10Pro) in SGCA (Alpha-sarcoglycan) is a protein-truncating 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.
L10P (p.Leu10Pro) variant details
- p.Leu10Pro
- gnomAD 17-50166065-CCT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 21.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available