L51Q (p.Leu51Gln) variant of CRX (Cone-rod homeobox protein)
L51Q (p.Leu51Gln) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L51Q (p.Leu51Gln) variant details
- p.Leu51Gln
- gnomAD 19-47836294-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.95
- CADD 26.60
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.702
- Literature evidence available