A84T (p.Ala84Thr) variant of ARNT (P27540)
A84T (p.Ala84Thr) in ARNT (P27540) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
A84T (p.Ala84Thr) variant details
- p.Ala84Thr
- rs1238485591
- TOPMed rs1238485591
- gnomAD rs1238485591
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.20
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)