R75G (p.Arg75Gly) variant of SMARCE1 (Q969G3)
R75G (p.Arg75Gly) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
R75G (p.Arg75Gly) variant details
- p.Arg75Gly
- rs2508606702
- ClinGen CA399367751
- ClinVar RCV003233427
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available