M103I (p.Met103Ile) variant of SMARCE1 (Q969G3)
M103I (p.Met103Ile) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
M103I (p.Met103Ile) variant details
- p.Met103Ile
- TOPMed rs1293539431
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available