H10Y (p.His10Tyr) variant of GAA (Lysosomal alpha-glucosidase)
H10Y (p.His10Tyr) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
H10Y (p.His10Tyr) variant details
- p.His10Tyr
- gnomAD rs1435052110
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.26
- MetaLR 0.33
- MetaSVM -0.75
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available