Y198D (p.Tyr198Asp) variant of EYS (Protein eyes shut homolog)
Y198D (p.Tyr198Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and published literature.
Y198D (p.Tyr198Asp) variant details
- p.Tyr198Asp
- rs886061686
- ClinGen CA364789576
- ClinVar RCV002824693
- ClinVar RCV005616470
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.55
- CADD 23.70
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)