R44Q (p.Arg44Gln) variant of ARNT (P27540)
R44Q (p.Arg44Gln) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
R44Q (p.Arg44Gln) variant details
- p.Arg44Gln
- ExAC rs764626976
- TOPMed rs764626976
- gnomAD rs764626976
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.11
- CADD 23.80
- PolyPhen-2 0.30
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 0.00046)