V136F (p.Val136Phe) variant of EYS (Protein eyes shut homolog)
V136F (p.Val136Phe) in EYS (Protein eyes shut homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and published literature.
V136F (p.Val136Phe) variant details
- p.Val136Phe
- rs543011021
- UniProt VAR 063440
- ExAC rs543011021
- gnomAD rs543011021
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.50
- CADD 15.30
- PolyPhen-2 0.32
- SIFT 0.00
- Population evidence available
- Cited in: EYS is a major gene for rod-cone dystrophies in France. (PMID 20333770)