S83F (p.Ser83Phe) variant of ARNT (P27540)
S83F (p.Ser83Phe) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
S83F (p.Ser83Phe) variant details
- p.Ser83Phe
- ExAC rs749523683
- gnomAD rs749523683
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.11
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)