P130T (p.Pro130Thr) variant of PAX5 (Paired box protein Pax-5)
P130T (p.Pro130Thr) 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.
P130T (p.Pro130Thr) variant details
- p.Pro130Thr
- rs2132470584
- ClinGen CA373487766
- ClinVar RCV003444138
- Ensembl rs2132470584
- Likely pathogenic
- Acute lymphoid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Likely pathogenic (Acute lymphoid leukemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic