V66F (p.Val66Phe) variant of CRX (Cone-rod homeobox protein)
V66F (p.Val66Phe) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V66F (p.Val66Phe) variant details
- p.Val66Phe
- rs61748438
- ClinGen CA406629694
- ClinVar RCV002001280
- 1000Genomes rs61748438
- Uncertain significance
- Cone-rod dystrophy 2; Leber congenital amaurosis 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.68
- CADD 24.70
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (Cone-rod dystrophy 2; Leber congenital amaurosis 7)
- EBI: Benign (in dbSNP:rs61748438)
- UniProt: Benign (in dbSNP:rs61748438)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)