H10H (p.His10His) variant of CRX (Cone-rod homeobox protein)
H10H (p.His10His) in CRX (Cone-rod homeobox protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H10H (p.His10His) variant details
- p.His10His
- rs1327438189
- gnomAD 19-47834473-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.456
- CADD 8.34
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.642
- Literature evidence available