A3E (p.Ala3Glu) variant of CRX (Cone-rod homeobox protein)
A3E (p.Ala3Glu) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- gnomAD 19-47834451-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.44
- CADD 23.20
- PolyPhen-2 0.41
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.174
- Literature evidence available