A35D (p.Ala35Asp) variant of CRX (Cone-rod homeobox protein)
A35D (p.Ala35Asp) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A35D (p.Ala35Asp) variant details
- p.Ala35Asp
- TOPMed rs1360808512
- gnomAD rs1360808512
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.30
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.869