H53N (p.His53Asn) variant of GAA (Lysosomal alpha-glucosidase)
H53N (p.His53Asn) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H53N (p.His53Asn) variant details
- p.His53Asn
- ESP rs375154762
- ExAC rs375154762
- TOPMed rs375154762
- gnomAD rs375154762
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.17
- MetaLR 0.33
- MetaSVM -0.58
- CADD 0.01
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available