L18L (p.Leu18Leu) variant of CRX (Cone-rod homeobox protein)
L18L (p.Leu18Leu) in CRX (Cone-rod homeobox protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- rs747167744
- gnomAD 19-47834495-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 4.77
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.346
- Literature evidence available