L28F (p.Leu28Phe) variant of EYS (Protein eyes shut homolog)
L28F (p.Leu28Phe) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data.
L28F (p.Leu28Phe) variant details
- p.Leu28Phe
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.07
- CADD 4.62
- PolyPhen-2 0.02
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available