A12S (p.Ala12Ser) variant of BCL2L2 (Bcl-2-like protein 2)
A12S (p.Ala12Ser) in BCL2L2 (Bcl-2-like protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- ExAC rs778308004
- TOPMed rs778308004
- gnomAD rs778308004
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.07
- CADD 22.70
- PolyPhen-2 0.20
- SIFT 0.08
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available