R100Q (p.Arg100Gln) variant of ARNT (P27540)
R100Q (p.Arg100Gln) 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.
R100Q (p.Arg100Gln) variant details
- p.Arg100Gln
- cosmic curated COSV10818
- Ensembl rs2101952506
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.72
- CADD 29.50
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)