G18R (p.Gly18Arg) variant of ARNT (P27540)
G18R (p.Gly18Arg) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- TOPMed rs1665011550
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.18
- CADD 23.30
- PolyPhen-2 0.43
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)