I45K (p.Ile45Lys) variant of SPTB (Spectrin beta chain, erythrocytic)
I45K (p.Ile45Lys) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified.
I45K (p.Ile45Lys) variant details
- p.Ile45Lys
- rs2503301932
- ClinGen CA390038194
- ClinVar RCV003322542
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance