R309G (p.Arg309Gly) variant of NR2E3 (Q9Y5X4)
R309G (p.Arg309Gly) in NR2E3 (Q9Y5X4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Enhanced S-cone syndrome; not provided; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R309G (p.Arg309Gly) variant details
- p.Arg309Gly
- rs774102273
- ClinGen CA393037479
- ClinVar RCV001379522
- ClinVar RCV001831369
- Pathogenic/Likely pathogenic
- Enhanced S-cone syndrome; not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 22.90
- PolyPhen-2 0.53
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Enhanced S-cone syndrome; not provided; Retinitis pigmentosa)
- EBI: Pathogenic (in ESCS1)
- UniProt: Pathogenic (in ESCS1)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)