Q39K (p.Gln39Lys) variant of CRX (Cone-rod homeobox protein)
Q39K (p.Gln39Lys) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q39K (p.Gln39Lys) variant details
- p.Gln39Lys
- gnomAD 19-47836257-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.75
- CADD 24.90
- PolyPhen-2 0.86
- SIFT 0.01
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.875
- Literature evidence available