G85R (p.Gly85Arg) variant of PAX5 (Paired box protein Pax-5)
G85R (p.Gly85Arg) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Leukemia, acute lymphoblastic, susceptibility to, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1.
G85R (p.Gly85Arg) variant details
- p.Gly85Arg
- rs2132472428
- ClinGen CA373488072
- NCI-TCGA Cosmic COSV1008
- NCI-TCGA Cosmic COSV6391
- Conflicting interpretations
- not provided; Leukemia, acute lymphoblastic, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.91
- ClinVar: Conflicting classifications of pathogenicity (not provided; Leukemia, acute lymphoblastic, susceptibility to,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic