S134C (p.Ser134Cys) variant of PAX5 (Paired box protein Pax-5)
S134C (p.Ser134Cys) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Acute lymphoid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1.
S134C (p.Ser134Cys) variant details
- p.Ser134Cys
- rs2132470416
- ClinGen CA373487738
- ClinVar RCV003444116
- Ensembl rs2132470416
- Likely pathogenic
- Acute lymphoid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Likely pathogenic (Acute lymphoid leukemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic