R97H (p.Arg97His) variant of NR2E3 (Q9Y5X4)
R97H (p.Arg97His) 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; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R97H (p.Arg97His) variant details
- p.Arg97His
- rs1489149705
- ClinGen CA393032536
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10048
- Pathogenic/Likely pathogenic
- Enhanced S-cone syndrome; not provided; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Enhanced S-cone syndrome; not provided; Retinal dystrophy)
- EBI: Pathogenic (in ESCS1)
- UniProt: Pathogenic (in ESCS1)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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: Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary… (PMID 12963616)