R26Q (p.Arg26Gln) variant of EYS (Protein eyes shut homolog)
R26Q (p.Arg26Gln) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Retinitis pigmentosa; Retinitis pigmentosa 25. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and published literature.
R26Q (p.Arg26Gln) variant details
- p.Arg26Gln
- rs528733427
- ClinGen CA140434991
- NCI-TCGA Cosmic COSV1006
- NCI-TCGA Cosmic COSV6098
- Conflicting interpretations
- not provided; Retinitis pigmentosa; Retinitis pigmentosa 25
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.08
- CADD 0.73
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Conflicting classifications of pathogenicity (not provided; Retinitis pigmentosa; Retinitis pigmentosa 25)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)