E50K (p.Glu50Lys) variant of SPTA1 (P02549)
E50K (p.Glu50Lys) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- cosmic curated COSV10651
- Ensembl rs2101958351
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance