Q28Q (p.Gln28Gln) variant of CRX (Cone-rod homeobox protein)
Q28Q (p.Gln28Gln) in CRX (Cone-rod homeobox protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q28Q (p.Gln28Gln) variant details
- p.Gln28Gln
- rs1196202479
- gnomAD 19-47834527-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.18
- CADD 4.95
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.46
- Literature evidence available