P8S (p.Pro8Ser) variant of PAX5 (Paired box protein Pax-5)
P8S (p.Pro8Ser) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Leukemia, acute lymphoblastic, susceptibility to, 3; not provided; Inborn geneti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and published literature.
P8S (p.Pro8Ser) variant details
- p.Pro8Ser
- rs1466879183
- ClinGen CA373486907
- cosmic curated COSV10527
- ClinVar RCV002254870
- Uncertain significance
- Leukemia, acute lymphoblastic, susceptibility to, 3; not provided; Inborn geneti
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.31
- MetaLR 0.82
- MetaSVM 0.43
- CADD 20.00
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Leukemia, acute lymphoblastic, susceptibility to, 3; not provide)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- 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)