T39M (p.Thr39Met) variant of GLA (Alpha-galactosidase A)
T39M (p.Thr39Met) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar 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 0.74 / 1. The record also includes population frequency data and structural context.
T39M (p.Thr39Met) variant details
- p.Thr39Met
- rs201819574
- NCI-TCGA Cosmic COSV5450
- 1000Genomes rs201819574
- ExAC rs201819574
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.87
- AlphaMissense 0.09
- MetaLR 1.00
- MetaSVM 0.85
- CADD 23.60
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Fabry disease)
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0066)
- Structural context available