L130I (p.Leu130Ile) variant of EYS (Protein eyes shut homolog)
L130I (p.Leu130Ile) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
L130I (p.Leu130Ile) variant details
- p.Leu130Ile
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.