I109V (p.Ile109Val) variant of ARNT (P27540)
I109V (p.Ile109Val) 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.
I109V (p.Ile109Val) variant details
- p.Ile109Val
- TOPMed rs1177252825
- gnomAD rs1177252825
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.83
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)