R8K (p.Arg8Lys) variant of GBA1 (P04062)
R8K (p.Arg8Lys) in GBA1 (P04062) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
R8K (p.Arg8Lys) variant details
- p.Arg8Lys
- NCI-TCGA Cosmic COSV1005
- NCI-TCGA Cosmic COSV5916
- cosmic curated COSV59169
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available