K175E (p.Lys175Glu) variant of SPTBN2 (O15020)
K175E (p.Lys175Glu) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided.
K175E (p.Lys175Glu) variant details
- p.Lys175Glu
- rs1431236793
- ClinGen CA381483438
- ClinVar RCV003329814
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance