P39T (p.Pro39Thr) variant of GAA (Lysosomal alpha-glucosidase)
P39T (p.Pro39Thr) 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 0.46 / 1. The record also includes published literature and structural context.
P39T (p.Pro39Thr) variant details
- p.Pro39Thr
- rs759236536
- ClinGen CA401360278
- ClinVar RCV001367724
- ExAC rs759236536
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- AlphaMissense 0.10
- MetaLR 0.45
- MetaSVM -0.08
- PolyPhen-2 0.90
- SIFT 0.17
- MutPred 0.35
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
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