M130L (p.Met130Leu) variant of SMARCE1 (Q969G3)
M130L (p.Met130Leu) in SMARCE1 (Q969G3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
M130L (p.Met130Leu) variant details
- p.Met130Leu
- Ensembl rs2143996528
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available