T44T (p.Thr44Thr) variant of CRX (Cone-rod homeobox protein)
T44T (p.Thr44Thr) in CRX (Cone-rod homeobox protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T44T (p.Thr44Thr) variant details
- p.Thr44Thr
- rs763733046
- gnomAD 19-47836274-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.303
- CADD 9.29
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.0349
- Literature evidence available