M2R (p.Met2Arg) variant of SMARCB1 (Q12824)
M2R (p.Met2Arg) in SMARCB1 (Q12824) 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 experimental measurements and structural context.
M2R (p.Met2Arg) variant details
- p.Met2Arg
- rs2517652396
- ClinGen CA410930362
- ClinVar RCV002305204
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.199