E9V (p.Glu9Val) variant of ARNT (P27540)
E9V (p.Glu9Val) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
E9V (p.Glu9Val) variant details
- p.Glu9Val
- TOPMed rs1432128766
- gnomAD rs1432128766
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.12
- CADD 26.40
- PolyPhen-2 0.18
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)