T148A (p.Thr148Ala) variant of ARNT (P27540)
T148A (p.Thr148Ala) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
T148A (p.Thr148Ala) variant details
- p.Thr148Ala
- ESP rs373016604
- ExAC rs373016604
- gnomAD rs373016604
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.38
- CADD 23.80
- PolyPhen-2 0.34
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)