L27V (p.Leu27Val) variant of GAA (Lysosomal alpha-glucosidase)
L27V (p.Leu27Val) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- 1000Genomes rs538605208
- ExAC rs538605208
- gnomAD rs538605208
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.26
- MetaLR 0.35
- MetaSVM -0.68
- CADD 4.08
- PolyPhen-2 0.03
- SIFT 0.22
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available