E25Q (p.Glu25Gln) variant of SHANK1 (Q9Y566)
E25Q (p.Glu25Gln) in SHANK1 (Q9Y566) 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.
E25Q (p.Glu25Gln) variant details
- p.Glu25Gln
- NCI-TCGA Cosmic COSV5326
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.04
- MetaSVM -1.02
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available