L122P (p.Leu122Pro) variant of ARNT (P27540)
L122P (p.Leu122Pro) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
L122P (p.Leu122Pro) variant details
- p.Leu122Pro
- gnomAD rs1347997303
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.79
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)