P40Q (p.Pro40Gln) variant of BCL2 (Apoptosis regulator Bcl-2)
P40Q (p.Pro40Gln) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P40Q (p.Pro40Gln) variant details
- p.Pro40Gln
- ExAC rs770925898
- gnomAD rs770925898
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -0.95
- CADD 13.00
- PolyPhen-2 0.08
- SIFT 0.09
- Population evidence available
- Structural context available