V116I (p.Val116Ile) variant of ARNT (P27540)
V116I (p.Val116Ile) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
V116I (p.Val116Ile) variant details
- p.Val116Ile
- Ensembl rs2101951208
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.56
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the South Asian population (allele frequency 3.5e-05)