R76Q (p.Arg76Gln) variant of NR2E3 (Q9Y5X4)
R76Q (p.Arg76Gln) 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 1; NR2E3-related disorder; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R76Q (p.Arg76Gln) variant details
- p.Arg76Gln
- rs104894493
- ClinGen CA117573
- ClinVar RCV000005867
- ClinVar RCV000261496
- Pathogenic/Likely pathogenic
- ENHANCED S-CONE SYNDROME 1; NR2E3-related disorder; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ENHANCED S-CONE SYNDROME 1; NR2E3-related disorder; Retinal dyst)
- EBI: Pathogenic (in ESCS1)
- UniProt: Pathogenic (in ESCS1)
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)