R124Q (p.Arg124Gln) variant of ARNT (P27540)
R124Q (p.Arg124Gln) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
R124Q (p.Arg124Gln) variant details
- p.Arg124Gln
- cosmic curated COSV10610
- TOPMed rs1660906433
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.72
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)