C16C (p.Cys16Cys) variant of GAA (Lysosomal alpha-glucosidase)
C16C (p.Cys16Cys) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
C16C (p.Cys16Cys) variant details
- p.Cys16Cys
- rs202168804
- gnomAD 17-80104634-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.094
- CADD 1.89
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Literature evidence available