I19L (p.Ile19Leu) variant of BCL2 (Apoptosis regulator Bcl-2)
I19L (p.Ile19Leu) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I19L (p.Ile19Leu) variant details
- p.Ile19Leu
- cosmic curated COSV10942
- ExAC rs746600883
- TOPMed rs746600883
- gnomAD rs746600883
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.14
- MetaLR 0.01
- MetaSVM -0.70
- CADD 22.70
- PolyPhen-2 0.34
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available