G39R (p.Gly39Arg) variant of SHANK1 (Q9Y566)
G39R (p.Gly39Arg) in SHANK1 (Q9Y566) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
G39R (p.Gly39Arg) variant details
- p.Gly39Arg
- TOPMed rs1225349738
- NCI-TCGA Cosmic COSV9952
- cosmic curated COSV99521
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available