N7Y (p.Asn7Tyr) variant of ARNT (P27540)
N7Y (p.Asn7Tyr) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
N7Y (p.Asn7Tyr) variant details
- p.Asn7Tyr
- gnomAD rs1227142569
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.13
- CADD 26.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)