E131K (p.Glu131Lys) variant of SPTB (Spectrin beta chain, erythrocytic)
E131K (p.Glu131Lys) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided.
E131K (p.Glu131Lys) variant details
- p.Glu131Lys
- cosmic curated COSV67635
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance