P156L (p.Pro156Leu) variant of ARNT (P27540)
P156L (p.Pro156Leu) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
P156L (p.Pro156Leu) variant details
- p.Pro156Leu
- ExAC rs778405288
- gnomAD rs778405288
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.49
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)