T5I (p.Thr5Ile) variant of ARNT (P27540)
T5I (p.Thr5Ile) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
T5I (p.Thr5Ile) variant details
- p.Thr5Ile
- TOPMed rs1343634119
- gnomAD rs1343634119
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.06
- CADD 25.10
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)