C16W (p.Cys16Trp) variant of GAA (Lysosomal alpha-glucosidase)
C16W (p.Cys16Trp) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
C16W (p.Cys16Trp) variant details
- p.Cys16Trp
- gnomAD 17-80104634-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.32
- MetaLR 0.57
- MetaSVM -0.19
- CADD 16.80
- PolyPhen-2 0.81
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available