R99Q (p.Arg99Gln) variant of ARNT (P27540)
R99Q (p.Arg99Gln) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
R99Q (p.Arg99Gln) variant details
- p.Arg99Gln
- Ensembl rs2101952652
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.74
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)