M45L (p.Met45Leu) variant of SETD2 (Q9BYW2)
M45L (p.Met45Leu) in SETD2 (Q9BYW2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes experimental measurements and structural context.
M45L (p.Met45Leu) variant details
- p.Met45Leu
- 1000Genomes rs568718208
- ExAC rs568718208
- TOPMed rs568718208
- gnomAD rs568718208
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SETD2 WW domain domainome 1.0: score 0.0494