V15F (p.Val15Phe) variant of GAA (Lysosomal alpha-glucosidase)
V15F (p.Val15Phe) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V15F (p.Val15Phe) variant details
- p.Val15Phe
- gnomAD 17-80104629-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.40
- MetaLR 0.43
- MetaSVM -0.48
- CADD 0.06
- PolyPhen-2 0.07
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available