P79R (p.Pro79Arg) variant of EYS (Protein eyes shut homolog)
P79R (p.Pro79Arg) 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.
P79R (p.Pro79Arg) variant details
- p.Pro79Arg
- rs2533029634
- ClinGen CA364790348
- ClinVar RCV002834390
- NCI-TCGA Cosmic COSV1006
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance