E74K (p.Glu74Lys) variant of GLA (Alpha-galactosidase A)
E74K (p.Glu74Lys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
E74K (p.Glu74Lys) variant details
- p.Glu74Lys
- rs2147480899
- ClinGen CA413934375
- ClinVar RCV001761126
- Ensembl rs2147480899
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- AlphaMissense 0.08
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 0.13
- SIFT 0.00
- EVE 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available