L163F (p.Leu163Phe) variant of EYS (Protein eyes shut homolog)
L163F (p.Leu163Phe) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Retinitis pigmentosa; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and published literature.
L163F (p.Leu163Phe) variant details
- p.Leu163Phe
- rs144074328
- ClinGen CA140434966
- ClinVar RCV001161512
- ClinVar RCV002559544
- Uncertain significance
- not provided; Retinitis pigmentosa; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.38
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.13
- ClinVar: Uncertain significance (not provided; Retinitis pigmentosa; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)