R309L (p.Arg309Leu) variant of NR2E3 (Q9Y5X4)
R309L (p.Arg309Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
R309L (p.Arg309Leu) variant details
- p.Arg309Leu
- rs761628767
- ClinGen CA235938
- ClinVar RCV000171239
- ClinVar RCV001029779
- Likely pathogenic
- Enhanced S-cone syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- AlphaMissense 0.47
- MetaLR 0.57
- MetaSVM 0.48
- PolyPhen-2 0.99
- EVE 0.61
- MutPred 0.68
- ClinVar: Likely pathogenic (Enhanced S-cone syndrome)
- EBI: Likely pathogenic (in ESCS1)
- UniProt: Likely pathogenic (in ESCS1)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)