A129D (p.Ala129Asp) variant of SHANK1 (Q9Y566)
A129D (p.Ala129Asp) 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.
A129D (p.Ala129Asp) variant details
- p.Ala129Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.08
- MetaSVM -1.10
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available