E53K (p.Glu53Lys) variant of CRX (Cone-rod homeobox protein)
E53K (p.Glu53Lys) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes experimental measurements and structural context.
E53K (p.Glu53Lys) variant details
- p.Glu53Lys
- NCI-TCGA Cosmic COSV5575
- cosmic curated COSV55757
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.17