T47N (p.Thr47Asn) variant of CRX (Cone-rod homeobox protein)
T47N (p.Thr47Asn) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T47N (p.Thr47Asn) variant details
- p.Thr47Asn
- gnomAD 19-47836282-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.89
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.611
- Literature evidence available