T47T (p.Thr47Thr) variant of CRX (Cone-rod homeobox protein)
T47T (p.Thr47Thr) in CRX (Cone-rod homeobox protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T47T (p.Thr47Thr) variant details
- p.Thr47Thr
- gnomAD 19-47836283-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.85
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.611
- Literature evidence available