Q172L (p.Gln172Leu) variant of EYS (Protein eyes shut homolog)
Q172L (p.Gln172Leu) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
Q172L (p.Gln172Leu) variant details
- p.Gln172Leu
- NCI-TCGA Cosmic COSV6097
- cosmic curated COSV60976
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.