H10Q (p.His10Gln) variant of CRX (Cone-rod homeobox protein)
H10Q (p.His10Gln) 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.
H10Q (p.His10Gln) variant details
- p.His10Gln
- gnomAD 19-47834473-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.45
- CADD 22.20
- PolyPhen-2 0.70
- SIFT 0.26
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.642
- Literature evidence available