C16S (p.Cys16Ser) variant of GAA (Lysosomal alpha-glucosidase)
C16S (p.Cys16Ser) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
C16S (p.Cys16Ser) variant details
- p.Cys16Ser
- ExAC rs763027933
- TOPMed rs763027933
- gnomAD rs763027933
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.33
- MetaLR 0.36
- MetaSVM -0.55
- CADD 19.10
- PolyPhen-2 0.41
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available