A17V (p.Ala17Val) variant of CRX (Cone-rod homeobox protein)
A17V (p.Ala17Val) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- gnomAD 19-47834493-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.29
- CADD 22.40
- PolyPhen-2 0.07
- SIFT 0.04
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.613
- Literature evidence available