R40A (p.Arg40Ala) variant of SOX2 (Transcription factor SOX-2)
R40A (p.Arg40Ala) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes experimental measurements and structural context.
R40A (p.Arg40Ala) variant details
- p.Arg40Ala
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- UniProt: Variant assessed as somatic; high impact.
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.558