A3V (p.Ala3Val) variant of ARNT (P27540)
A3V (p.Ala3Val) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD rs1193355203
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.15
- CADD 27.60
- PolyPhen-2 0.94
- SIFT 0.11
- Population evidence available