G24R (p.Gly24Arg) variant of SMARCE1 (Q969G3)
G24R (p.Gly24Arg) 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 experimental measurements and structural context.
G24R (p.Gly24Arg) variant details
- p.Gly24Arg
- cosmic curated COSV62177
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.107