R311Q (p.Arg311Gln) variant of NR2E3 (Q9Y5X4)
R311Q (p.Arg311Gln) in NR2E3 (Q9Y5X4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of NR2E3-related disorder; Enhanced S-cone syndrome; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R311Q (p.Arg311Gln) variant details
- p.Arg311Gln
- rs28937873
- ClinGen CA117575
- ClinVar RCV000005869
- ClinVar RCV000005870
- Pathogenic/Likely pathogenic
- NR2E3-related disorder; Enhanced S-cone syndrome; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 20.00
- PolyPhen-2 0.17
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (NR2E3-related disorder; Enhanced S-cone syndrome; Retinal dystro)
- EBI: Pathogenic (in ESCS1)
- UniProt: Pathogenic (in ESCS1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- 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: The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from… (PMID 11071390)