A17V (p.Ala17Val) variant of GAA (Lysosomal alpha-glucosidase)
A17V (p.Ala17Val) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- cosmic curated COSV56411
- ESP rs150797523
- ExAC rs150797523
- TOPMed rs150797523
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.20
- MetaLR 0.41
- MetaSVM -0.66
- CADD 5.95
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available