G34A (p.Gly34Ala) variant of ARNT (P27540)
G34A (p.Gly34Ala) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
G34A (p.Gly34Ala) variant details
- p.Gly34Ala
- ExAC rs769659709
- TOPMed rs769659709
- gnomAD rs769659709
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.10
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.22
- Most common in the HGDP:FRENCH population (allele frequency 0.019)