R133L (p.Arg133Leu) variant of ARNT (P27540)
R133L (p.Arg133Leu) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data.
R133L (p.Arg133Leu) variant details
- p.Arg133Leu
- ExAC rs752945065
- TOPMed rs752945065
- gnomAD rs752945065
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.87
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)