R101Q (p.Arg101Gln) variant of ARNT (P27540)
R101Q (p.Arg101Gln) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data.
R101Q (p.Arg101Gln) variant details
- p.Arg101Gln
- gnomAD rs1660915592
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.89
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)