R40L (p.Arg40Leu) variant of SMARCB1 (Q12824)
R40L (p.Arg40Leu) in SMARCB1 (Q12824) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes experimental measurements and structural context.
R40L (p.Arg40Leu) variant details
- p.Arg40Leu
- Ensembl rs1928397102
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.33