A15D (p.Ala15Asp) variant of CRX (Cone-rod homeobox protein)
A15D (p.Ala15Asp) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A15D (p.Ala15Asp) variant details
- p.Ala15Asp
- gnomAD rs1318083411
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.27
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.774