Y81C (p.Tyr81Cys) variant of NR2E3 (Q9Y5X4)
Y81C (p.Tyr81Cys) in NR2E3 (Q9Y5X4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Enhanced S-cone syndrome; Retinitis pigmentosa 37; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Y81C (p.Tyr81Cys) variant details
- p.Tyr81Cys
- rs1246315416
- ClinGen CA393032212
- ClinVar RCV003559867
- ClinVar RCV005003673
- Likely pathogenic
- Enhanced S-cone syndrome; Retinitis pigmentosa 37; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 28.60
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Likely pathogenic (Enhanced S-cone syndrome; Retinitis pigmentosa 37; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)