L60V (p.Leu60Val) variant of ARNT (P27540)
L60V (p.Leu60Val) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
L60V (p.Leu60Val) variant details
- p.Leu60Val
- ExAC rs748595298
- TOPMed rs748595298
- gnomAD rs748595298
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.08
- CADD 22.10
- PolyPhen-2 0.39
- SIFT 0.20
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)