G44V (p.Gly44Val) variant of SHANK1 (Q9Y566)
G44V (p.Gly44Val) 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.
G44V (p.Gly44Val) variant details
- p.Gly44Val
- NCI-TCGA Cosmic COSV5326
- cosmic curated COSV53260
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.05
- MetaSVM -1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available