L113P (p.Leu113Pro) variant of SPTB (Spectrin beta chain, erythrocytic)
L113P (p.Leu113Pro) 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 provided.
L113P (p.Leu113Pro) variant details
- p.Leu113Pro
- rs2503220722
- ClinGen CA390035120
- ClinVar RCV002967129
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance