S47S (p.Ser47Ser) variant of SGCA (Alpha-sarcoglycan)
S47S (p.Ser47Ser) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S47S (p.Ser47Ser) variant details
- p.Ser47Ser
- rs1336059898
- gnomAD 17-50167471-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0959
- CADD 2.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available