N14K (p.Asn14Lys) variant of CRX (Cone-rod homeobox protein)
N14K (p.Asn14Lys) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cone-rod dystrophy 2; Leber congenital amaurosis 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N14K (p.Asn14Lys) variant details
- p.Asn14Lys
- rs774344094
- ClinGen CA9544375
- ClinVar RCV002038047
- ExAC rs774344094
- Uncertain significance
- Cone-rod dystrophy 2; Leber congenital amaurosis 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.38
- CADD 22.50
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (Cone-rod dystrophy 2; Leber congenital amaurosis 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.612
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)