K140R (p.Lys140Arg) variant of ARNT (P27540)
K140R (p.Lys140Arg) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
K140R (p.Lys140Arg) variant details
- p.Lys140Arg
- ExAC rs771390470
- TOPMed rs771390470
- gnomAD rs771390470
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.82
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 6.6e-05)