P94Q (p.Pro94Gln) variant of EYS (Protein eyes shut homolog)
P94Q (p.Pro94Gln) 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 25; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and published literature.
P94Q (p.Pro94Gln) variant details
- p.Pro94Gln
- rs111947397
- ClinGen CA3878102
- cosmic curated COSV60991
- ClinVar RCV000398864
- Conflicting interpretations
- not provided; Retinitis pigmentosa 25; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.21
- CADD 19.40
- PolyPhen-2 0.12
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Retinitis pigmentosa 25; Retinitis pigmentosa)
- EBI: Benign (in dbSNP:rs111947397)
- UniProt: Benign (in dbSNP:rs111947397)
- Population evidence available
- Cited in: EYS is a major gene for rod-cone dystrophies in France. (PMID 20333770)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)