T23P (p.Thr23Pro) variant of GAA (Lysosomal alpha-glucosidase)
T23P (p.Thr23Pro) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
T23P (p.Thr23Pro) variant details
- p.Thr23Pro
- gnomAD 17-80104653-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.54
- MetaLR 0.35
- MetaSVM -0.53
- CADD 9.86
- PolyPhen-2 0.21
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available