I41V (p.Ile41Val) variant of ARNT (P27540)
I41V (p.Ile41Val) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data.
I41V (p.Ile41Val) variant details
- p.Ile41Val
- cosmic curated COSV62230
- gnomAD rs1322104083
- Missense
- Variant Prioritization Score for Impact Estimate 0.0999
- REVEL 0.05
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)