R104W (p.Arg104Trp) variant of NR2E3 (Q9Y5X4)
R104W (p.Arg104Trp) in NR2E3 (Q9Y5X4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Enhanced S-cone syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R104W (p.Arg104Trp) variant details
- p.Arg104Trp
- rs990307718
- ClinGen CA272575004
- ClinVar RCV001050414
- ClinVar RCV001832466
- Pathogenic/Likely pathogenic
- not provided; Enhanced S-cone syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Enhanced S-cone syndrome)
- EBI: Pathogenic (in ESCS1)
- UniProt: Pathogenic (in ESCS1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. (PMID 10655056)
- Cited in: Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. (PMID 15459973)