H29Y (p.His29Tyr) variant of GAA (Lysosomal alpha-glucosidase)
H29Y (p.His29Tyr) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
H29Y (p.His29Tyr) variant details
- p.His29Tyr
- Ensembl rs543024942
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.24
- MetaLR 0.33
- MetaSVM -0.66
- CADD 11.10
- PolyPhen-2 0.14
- SIFT 0.14
- Most common in the HGDP:MAYA population (allele frequency 0.053)
- Structural context available