L18V (p.Leu18Val) variant of CRX (Cone-rod homeobox protein)
L18V (p.Leu18Val) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- gnomAD 19-47834495-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.35
- CADD 16.00
- PolyPhen-2 0.15
- SIFT 0.00
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.346
- Literature evidence available