R4W (p.Arg4Trp) variant of CDKN2A (Tumor suppressor ARF)
R4W (p.Arg4Trp) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
R4W (p.Arg4Trp) variant details
- p.Arg4Trp
- gnomAD rs1231812885
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- CADD 28.60
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)