R143W (p.Arg143Trp) variant of ARNT (P27540)
R143W (p.Arg143Trp) in ARNT (P27540) 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 0.43 / 1. The record also includes population frequency data.
R143W (p.Arg143Trp) variant details
- p.Arg143Trp
- NCI-TCGA TCGA novel
- TOPMed rs1660896814
- gnomAD rs1660896814
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.47
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)