V153L (p.Val153Leu) variant of SPTBN2 (O15020)
V153L (p.Val153Leu) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes structural context.
V153L (p.Val153Leu) variant details
- p.Val153Leu
- rs1554989084
- ClinGen CA381483603
- ClinVar RCV000517473
- TOPMed rs1554989084
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available