R43Q (p.Arg43Gln) variant of ARNT (P27540)
R43Q (p.Arg43Gln) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
R43Q (p.Arg43Gln) variant details
- p.Arg43Gln
- ExAC rs757715657
- gnomAD rs757715657
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.19
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)