I36T (p.Ile36Thr) variant of ARNT (P27540)
I36T (p.Ile36Thr) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
I36T (p.Ile36Thr) variant details
- p.Ile36Thr
- ExAC rs754603094
- TOPMed rs754603094
- gnomAD rs754603094
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.11
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.00035)