P54L (p.Pro54Leu) variant of GAA (Lysosomal alpha-glucosidase)
P54L (p.Pro54Leu) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P54L (p.Pro54Leu) variant details
- p.Pro54Leu
- rs768898668
- ClinGen CA8814799
- ClinVar RCV001248345
- ExAC rs768898668
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.07
- MetaLR 0.33
- MetaSVM -0.64
- PolyPhen-2 0.00
- SIFT 0.16
- MutPred 0.19
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
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