P54T (p.Pro54Thr) variant of GAA (Lysosomal alpha-glucosidase)
P54T (p.Pro54Thr) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P54T (p.Pro54Thr) variant details
- p.Pro54Thr
- ExAC rs747611893
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.23
- MetaLR 0.41
- MetaSVM -0.61
- CADD 0.23
- PolyPhen-2 0.00
- SIFT 0.76
- Population evidence available
- Structural context available