L11M (p.Leu11Met) variant of EYS (Protein eyes shut homolog)
L11M (p.Leu11Met) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
L11M (p.Leu11Met) variant details
- p.Leu11Met
- rs1475478558
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- gnomAD rs1475478558
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.20
- CADD 6.57
- PolyPhen-2 0.46
- SIFT 0.28
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available