E76K (p.Glu76Lys) variant of C9ORF72 (Q96LT7)
E76K (p.Glu76Lys) in C9ORF72 (Q96LT7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
E76K (p.Glu76Lys) variant details
- p.Glu76Lys
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10118
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available