P39L (p.Pro39Leu) variant of BCL2 (Apoptosis regulator Bcl-2)
P39L (p.Pro39Leu) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- cosmic curated COSV10520
- gnomAD rs1224885133
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.09
- MetaLR 0.01
- MetaSVM -1.02
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available