P40L (p.Pro40Leu) variant of BCL2 (Apoptosis regulator Bcl-2)
P40L (p.Pro40Leu) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- ExAC rs770925898
- gnomAD rs770925898
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.95
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available