E100V (p.Glu100Val) variant of HMGCS2 (P54868)
E100V (p.Glu100Val) in HMGCS2 (P54868) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
E100V (p.Glu100Val) variant details
- p.Glu100Val
- NCI-TCGA Cosmic COSV6556
- cosmic curated COSV65568
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available