Q2P (p.Gln2Pro) variant of GLA (Alpha-galactosidase A)
Q2P (p.Gln2Pro) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q2P (p.Gln2Pro) variant details
- p.Gln2Pro
- ExAC rs782386191
- gnomAD rs782386191
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.18
- AlphaMissense 0.06
- MetaLR 0.98
- MetaSVM 2.10
- CADD 7.18
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Fabry disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available