S19C (p.Ser19Cys) variant of CRX (Cone-rod homeobox protein)
S19C (p.Ser19Cys) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S19C (p.Ser19Cys) variant details
- p.Ser19Cys
- gnomAD 19-47834498-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.30
- CADD 22.60
- PolyPhen-2 0.16
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.239
- Literature evidence available