M407K (p.Met407Lys) variant of NR2E3 (Q9Y5X4)
M407K (p.Met407Lys) in NR2E3 (Q9Y5X4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Enhanced S-cone syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and published literature.
M407K (p.Met407Lys) variant details
- p.Met407Lys
- rs1303613101
- ClinGen CA393041667
- ClinVar RCV003064287
- ClinVar RCV003465929
- Pathogenic/Likely pathogenic
- not provided; Enhanced S-cone syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Enhanced S-cone syndrome)
- EBI: Pathogenic (in ESCS1)
- UniProt: Pathogenic (in ESCS1)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)