K65E (p.Lys65Glu) variant of EYS (Protein eyes shut homolog)
K65E (p.Lys65Glu) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided.
K65E (p.Lys65Glu) variant details
- p.Lys65Glu
- rs2533029865
- ClinGen CA364790442
- ClinVar RCV002806416
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance