S125Y (p.Ser125Tyr) variant of SHANK1 (Q9Y566)
S125Y (p.Ser125Tyr) 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.
S125Y (p.Ser125Tyr) variant details
- p.Ser125Tyr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.03
- MetaSVM -1.06
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available