S17F (p.Ser17Phe) variant of EYS (Protein eyes shut homolog)
S17F (p.Ser17Phe) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance.
S17F (p.Ser17Phe) variant details
- p.Ser17Phe
- rs1435131611
- NCI-TCGA Cosmic COSV6099
- cosmic curated COSV60994
- TOPMed rs1435131611
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance