R232K (p.Arg232Lys) variant of EYS (Protein eyes shut homolog)
R232K (p.Arg232Lys) 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.
R232K (p.Arg232Lys) variant details
- p.Arg232Lys
- rs139634679
- ClinGen CA364789345
- NCI-TCGA Cosmic COSV6099
- ClinVar RCV002021569
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance