V3L (p.Val3Leu) variant of GAA (Lysosomal alpha-glucosidase)
V3L (p.Val3Leu) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V3L (p.Val3Leu) variant details
- p.Val3Leu
- gnomAD 17-80104593-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.23
- MetaLR 0.41
- MetaSVM -0.61
- CADD 0.29
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available