R69G (p.Arg69Gly) variant of CRX (Cone-rod homeobox protein)
R69G (p.Arg69Gly) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R69G (p.Arg69Gly) variant details
- p.Arg69Gly
- rs771551785
- ClinGen CA406629722
- ClinVar RCV003056494
- Uncertain significance
- Cone-rod dystrophy 2; Leber congenital amaurosis 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.83
- CADD 25.70
- PolyPhen-2 0.18
- SIFT 0.00
- ClinVar: Uncertain significance (Cone-rod dystrophy 2; Leber congenital amaurosis 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)