N69I (p.Asn69Ile) variant of ARNT (P27540)
N69I (p.Asn69Ile) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
N69I (p.Asn69Ile) variant details
- p.Asn69Ile
- gnomAD rs1272091771
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.10
- CADD 23.50
- PolyPhen-2 0.39
- SIFT 0.02
- Most common in the South Asian population (allele frequency 3.5e-05)