G55E (p.Gly55Glu) variant of ARNT (P27540)
G55E (p.Gly55Glu) 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 and structural context.
G55E (p.Gly55Glu) variant details
- p.Gly55Glu
- ExAC rs778132479
- gnomAD rs778132479
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.07
- CADD 23.30
- PolyPhen-2 0.41
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available