G8E (p.Gly8Glu) variant of CRX (Cone-rod homeobox protein)
G8E (p.Gly8Glu) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G8E (p.Gly8Glu) variant details
- p.Gly8Glu
- gnomAD 19-47834466-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.39
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.08
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.0369
- Literature evidence available