A3A (p.Ala3Ala) variant of CRX (Cone-rod homeobox protein)
A3A (p.Ala3Ala) in CRX (Cone-rod homeobox protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- rs140766502
- gnomAD 19-47834452-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.42
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.174
- Literature evidence available