E146Q (p.Glu146Gln) variant of SHANK1 (Q9Y566)
E146Q (p.Glu146Gln) 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.
E146Q (p.Glu146Gln) variant details
- p.Glu146Gln
- NCI-TCGA Cosmic COSV5324
- cosmic curated COSV53247
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.04
- MetaSVM -1.04
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available