P48S (p.Pro48Ser) variant of BCL2L1 (Bcl-2-like protein 1)
P48S (p.Pro48Ser) in BCL2L1 (Bcl-2-like protein 1) 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.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- ESP rs376431497
- ExAC rs376431497
- TOPMed rs376431497
- gnomAD rs376431497
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.08
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.60
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available