H33P (p.His33Pro) variant of GAA (Lysosomal alpha-glucosidase)
H33P (p.His33Pro) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
H33P (p.His33Pro) variant details
- p.His33Pro
- gnomAD 17-80104684-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.49
- MetaLR 0.38
- MetaSVM -0.61
- CADD 11.00
- PolyPhen-2 0.15
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available