V78L (p.Val78Leu) variant of SPTBN2 (O15020)
V78L (p.Val78Leu) in SPTBN2 (O15020) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
V78L (p.Val78Leu) variant details
- p.Val78Leu
- ESP rs149918123
- ExAC rs149918123
- TOPMed rs149918123
- gnomAD rs149918123
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available