T4A (p.Thr4Ala) variant of ARNT (P27540)
T4A (p.Thr4Ala) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
T4A (p.Thr4Ala) variant details
- p.Thr4Ala
- gnomAD rs1265421807
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.05
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the South Asian population (allele frequency 5e-05)