E12V (p.Glu12Val) variant of CHD7 (Q9P2D1)
E12V (p.Glu12Val) 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 and structural context.
E12V (p.Glu12Val) variant details
- p.Glu12Val
- NCI-TCGA Cosmic COSV1014
- cosmic curated COSV10141
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.19
- MetaSVM -0.70
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available