S22V (p.Ser22Val) variant of CRX (Cone-rod homeobox protein)
S22V (p.Ser22Val) in CRX (Cone-rod homeobox protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S22V (p.Ser22Val) variant details
- p.Ser22Val
- rs775167405
- gnomAD 19-47834502-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 23.40
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.425
- Literature evidence available