A84V (p.Ala84Val) variant of ARNT (P27540)
A84V (p.Ala84Val) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
A84V (p.Ala84Val) variant details
- p.Ala84Val
- ESP rs143641553
- ExAC rs143641553
- TOPMed rs143641553
- gnomAD rs143641553
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.27
- CADD 23.80
- PolyPhen-2 0.15
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 7.3e-05)