V30E (p.Val30Glu) variant of CRX (Cone-rod homeobox protein)
V30E (p.Val30Glu) 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 Leber congenital amaurosis 7; Cone-rod dystrophy 2. The record also includes published literature and structural context.
V30E (p.Val30Glu) variant details
- p.Val30Glu
- rs2514250200
- ClinGen CA406629111
- ClinVar RCV003054109
- Uncertain significance
- Leber congenital amaurosis 7; Cone-rod dystrophy 2
- Missense
- ClinVar: Uncertain significance (Leber congenital amaurosis 7; Cone-rod dystrophy 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)