R8S (p.Arg8Ser) variant of CUX1 (Homeobox protein cut-like 1)
R8S (p.Arg8Ser) in CUX1 (Homeobox protein cut-like 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- gnomAD 7-101817661-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 17.50
- Population evidence available
- Structural context available
- CUX1 Homeobox domain domainome 1.0: score -0.516
- Literature evidence available