P19L (p.Pro19Leu) variant of ARNT (P27540)
P19L (p.Pro19Leu) 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.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- ExAC rs760782153
- gnomAD rs760782153
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.11
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 3.3e-05)