G32D (p.Gly32Asp) variant of ARNT (P27540)
G32D (p.Gly32Asp) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
G32D (p.Gly32Asp) variant details
- p.Gly32Asp
- ExAC rs773179687
- TOPMed rs773179687
- gnomAD rs773179687
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.09
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)