R143Q (p.Arg143Gln) variant of ARNT (P27540)
R143Q (p.Arg143Gln) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
R143Q (p.Arg143Gln) variant details
- p.Arg143Gln
- ExAC rs763121654
- TOPMed rs763121654
- gnomAD rs763121654
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.40
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00012)