V19L (p.Val19Leu) variant of GAA (Lysosomal alpha-glucosidase)
V19L (p.Val19Leu) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V19L (p.Val19Leu) variant details
- p.Val19Leu
- ESP rs200343198
- ExAC rs200343198
- TOPMed rs200343198
- gnomAD rs200343198
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.27
- MetaLR 0.34
- MetaSVM -0.59
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.89
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available