E21K (p.Glu21Lys) variant of H6PD (O95479)
E21K (p.Glu21Lys) in H6PD (O95479) 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.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- NCI-TCGA Cosmic COSV6623
- cosmic curated COSV66230
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.15
- MetaSVM -0.81
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available