R148G (p.Arg148Gly) variant of SMARCE1 (Q969G3)
R148G (p.Arg148Gly) in SMARCE1 (Q969G3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R148G (p.Arg148Gly) variant details
- p.Arg148Gly
- ESP rs147065057
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available