N69D (p.Asn69Asp) variant of ARNT (P27540)
N69D (p.Asn69Asp) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
N69D (p.Asn69Asp) variant details
- p.Asn69Asp
- Ensembl rs940467216
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.10
- CADD 22.10
- PolyPhen-2 0.11
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)