G18A (p.Gly18Ala) variant of ARNT (P27540)
G18A (p.Gly18Ala) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
G18A (p.Gly18Ala) variant details
- p.Gly18Ala
- ExAC rs754424632
- gnomAD rs754424632
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.15
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)