A68V (p.Ala68Val) variant of CRX (Cone-rod homeobox protein)
A68V (p.Ala68Val) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cone-rod dystrophy 2; Leber congenital amaurosis 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A68V (p.Ala68Val) variant details
- p.Ala68Val
- rs145649717
- ClinGen CA9544417
- ClinVar RCV001361102
- 1000Genomes rs145649717
- Likely benign
- Cone-rod dystrophy 2; Leber congenital amaurosis 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.43
- CADD 22.70
- PolyPhen-2 0.22
- SIFT 0.01
- ClinVar: Likely benign (Cone-rod dystrophy 2; Leber congenital amaurosis 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)