R31Q (p.Arg31Gln) variant of PAX5 (Paired box protein Pax-5)
R31Q (p.Arg31Gln) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- rs1839782073
- ClinGen CA373488446
- NCI-TCGA Cosmic COSV6390
- cosmic curated COSV63904
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.94
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance