T130A (p.Thr130Ala) variant of ARNT (P27540)
T130A (p.Thr130Ala) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
T130A (p.Thr130Ala) variant details
- p.Thr130Ala
- Ensembl rs1056979657
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.89
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)