Q2L (p.Gln2Leu) variant of GLA (Alpha-galactosidase A)
Q2L (p.Gln2Leu) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
Q2L (p.Gln2Leu) variant details
- p.Gln2Leu
- rs782386191
- ClinGen CA413937929
- ClinVar RCV004520633
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- AlphaMissense 0.06
- MetaLR 0.98
- MetaSVM 2.10
- PolyPhen-2 0.00
- SIFT 0.02
- MutPred 0.26
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available