E22Q (p.Glu22Gln) variant of CHD7 (Q9P2D1)
E22Q (p.Glu22Gln) in CHD7 (Q9P2D1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions, experimental measurements, and structural context.
E22Q (p.Glu22Gln) variant details
- p.Glu22Gln
- NCI-TCGA Cosmic COSV7111
- cosmic curated COSV71111
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.42
- MetaSVM -0.17
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- CHD7 BRK domain domainome 1.0: score -1.03