A152G (p.Ala152Gly) variant of SMARCE1 (Q969G3)
A152G (p.Ala152Gly) in SMARCE1 (Q969G3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A152G (p.Ala152Gly) variant details
- p.Ala152Gly
- ExAC rs781231331
- gnomAD rs781231331
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available