R50H (p.Arg50His) variant of CUX1 (Homeobox protein cut-like 1)
R50H (p.Arg50His) in CUX1 (Homeobox protein cut-like 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R50H (p.Arg50His) variant details
- p.Arg50His
- NCI-TCGA TCGA novel
- gnomAD rs1820255949
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.31
- MetaLR 0.20
- MetaSVM -0.82
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- CUX1 CUT domain domainome 1.0: score -0.165