P33Q (p.Pro33Gln) variant of CRX (Cone-rod homeobox protein)
P33Q (p.Pro33Gln) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P33Q (p.Pro33Gln) variant details
- p.Pro33Gln
- gnomAD 19-47834541-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.52
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.04
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -1.06
- Literature evidence available