N34T (p.Asn34Thr) variant of SMARCB1 (Q12824)
N34T (p.Asn34Thr) in SMARCB1 (Q12824) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes experimental measurements and structural context.
N34T (p.Asn34Thr) variant details
- p.Asn34Thr
- Ensembl rs2145959891
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.615