D79Y (p.Asp79Tyr) variant of ARNT (P27540)
D79Y (p.Asp79Tyr) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
D79Y (p.Asp79Tyr) variant details
- p.Asp79Tyr
- gnomAD rs1460673481
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.35
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)