I36V (p.Ile36Val) variant of ARNT (P27540)
I36V (p.Ile36Val) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data.
I36V (p.Ile36Val) variant details
- p.Ile36Val
- cosmic curated COSV10591
- TOPMed rs1230813269
- gnomAD rs1230813269
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.04
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)