N7K (p.Asn7Lys) variant of ARNT (P27540)
N7K (p.Asn7Lys) 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.
N7K (p.Asn7Lys) variant details
- p.Asn7Lys
- ExAC rs747271228
- TOPMed rs747271228
- gnomAD rs747271228
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.07
- CADD 25.30
- PolyPhen-2 0.93
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.3e-05)