F53L (p.Phe53Leu) variant of EYS (Protein eyes shut homolog)
F53L (p.Phe53Leu) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Autosomal recessive retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data.
F53L (p.Phe53Leu) variant details
- p.Phe53Leu
- NCI-TCGA TCGA novel
- NCI-TCGA Cosmic COSV6099
- cosmic curated COSV60998
- Uncertain significance
- Autosomal recessive retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.14
- CADD 9.37
- PolyPhen-2 0.07
- SIFT 0.18
- ClinVar: Uncertain significance (Autosomal recessive retinitis pigmentosa)
- UniProt: Uncertain significance
- Population evidence available