A135T (p.Ala135Thr) variant of ARNT (P27540)
A135T (p.Ala135Thr) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
A135T (p.Ala135Thr) variant details
- p.Ala135Thr
- 1000Genomes rs181961097
- ExAC rs181961097
- TOPMed rs181961097
- gnomAD rs181961097
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.70
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:ASW population (allele frequency 0.0098)