A3V (p.Ala3Val) variant of CRX (Cone-rod homeobox protein)
A3V (p.Ala3Val) 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; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs762715327
- ClinGen CA9544358
- cosmic curated COSV99032
- ClinVar RCV001057955
- Uncertain significance
- Leber congenital amaurosis 7; Cone-rod dystrophy 2; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.48
- CADD 23.40
- PolyPhen-2 0.28
- SIFT 0.00
- ClinVar: Uncertain significance (Leber congenital amaurosis 7; Cone-rod dystrophy 2; Retinal dyst)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.174
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)