S24L (p.Ser24Leu) variant of BCL2 (Apoptosis regulator Bcl-2)
S24L (p.Ser24Leu) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
S24L (p.Ser24Leu) variant details
- p.Ser24Leu
- rs1913587435
- ClinGen CA402633160
- ClinVar RCV004426281
- TOPMed rs1913587435
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- AlphaMissense 0.47
- MetaLR 0.02
- MetaSVM -1.05
- PolyPhen-2 0.58
- SIFT 0.04
- MutPred 0.72
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available