A56A (p.Ala56Ala) variant of CRX (Cone-rod homeobox protein)
A56A (p.Ala56Ala) in CRX (Cone-rod homeobox protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A56A (p.Ala56Ala) variant details
- p.Ala56Ala
- gnomAD 19-47836310-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.108
- CADD 3.89
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.325
- Literature evidence available