E44G (p.Glu44Gly) variant of SPTA1 (P02549)
E44G (p.Glu44Gly) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided.
E44G (p.Glu44Gly) variant details
- p.Glu44Gly
- rs2525389932
- ClinGen CA343026742
- ClinVar RCV003736438
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance