R43S (p.Arg43Ser) variant of CRX (Cone-rod homeobox protein)
R43S (p.Arg43Ser) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cone-rod dystrophy 2; Leber congenital amaurosis 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R43S (p.Arg43Ser) variant details
- p.Arg43Ser
- rs1437021651
- ClinGen CA406629448
- NCI-TCGA Cosmic COSV5575
- NCI-TCGA Cosmic COSV9970
- Likely pathogenic
- Cone-rod dystrophy 2; Leber congenital amaurosis 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.95
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Cone-rod dystrophy 2; Leber congenital amaurosis 7)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.705
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)