A35G (p.Ala35Gly) variant of ARNT (P27540)
A35G (p.Ala35Gly) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
A35G (p.Ala35Gly) variant details
- p.Ala35Gly
- ExAC rs780629150
- TOPMed rs780629150
- gnomAD rs780629150
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.07
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)