P7Q (p.Pro7Gln) variant of CRX (Cone-rod homeobox protein)
P7Q (p.Pro7Gln) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P7Q (p.Pro7Gln) variant details
- p.Pro7Gln
- gnomAD 19-47834463-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.37
- CADD 21.90
- PolyPhen-2 0.99
- SIFT 1.00
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.535
- Literature evidence available