A3T (p.Ala3Thr) variant of ARNT (P27540)
A3T (p.Ala3Thr) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- TOPMed rs1268420256
- gnomAD rs1268420256
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.15
- CADD 24.00
- PolyPhen-2 0.96
- SIFT 0.24
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)