G27E (p.Gly27Glu) variant of ARNT (P27540)
G27E (p.Gly27Glu) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
G27E (p.Gly27Glu) variant details
- p.Gly27Glu
- TOPMed rs1190052109
- gnomAD rs1190052109
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.12
- CADD 21.70
- PolyPhen-2 0.40
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)