S34R (p.Ser34Arg) variant of CRX (Cone-rod homeobox protein)
S34R (p.Ser34Arg) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S34R (p.Ser34Arg) variant details
- p.Ser34Arg
- 1000Genomes rs139778328
- ESP rs139778328
- ExAC rs139778328
- TOPMed rs139778328
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.34
- CADD 8.47
- PolyPhen-2 0.20
- SIFT 0.04
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.186