I19N (p.Ile19Asn) variant of BAX (Apoptosis regulator BAX)
I19N (p.Ile19Asn) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
I19N (p.Ile19Asn) variant details
- p.Ile19Asn
- ESP rs374123839
- ExAC rs374123839
- TOPMed rs374123839
- gnomAD rs374123839
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.24
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available