A40T (p.Ala40Thr) variant of ARNT (P27540)
A40T (p.Ala40Thr) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- TOPMed rs1664999152
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.02
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)