R73W (p.Arg73Trp) variant of ARNT (P27540)
R73W (p.Arg73Trp) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R73W (p.Arg73Trp) variant details
- p.Arg73Trp
- cosmic curated COSV62230
- ExAC rs769096175
- TOPMed rs769096175
- gnomAD rs769096175
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.23
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available