L16L (p.Leu16Leu) variant of CRX (Cone-rod homeobox protein)
L16L (p.Leu16Leu) in CRX (Cone-rod homeobox protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L16L (p.Leu16Leu) variant details
- p.Leu16Leu
- rs1030462247
- gnomAD 19-47834491-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 7.65
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score 0.583
- Literature evidence available