R140Q (p.Arg140Gln) variant of PAX5 (Paired box protein Pax-5)
R140Q (p.Arg140Gln) 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 Inborn genetic diseases; Leukemia, acute lymphoblastic, susceptibility to, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature.
R140Q (p.Arg140Gln) variant details
- p.Arg140Gln
- rs2132424384
- ClinGen CA373487684
- cosmic curated COSV10744
- ClinVar RCV001580198
- Likely pathogenic
- Inborn genetic diseases; Leukemia, acute lymphoblastic, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.89
- ClinVar: Likely pathogenic (Inborn genetic diseases; Leukemia, acute lymphoblastic, suscepti)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)