R31W (p.Arg31Trp) variant of PAX5 (Paired box protein Pax-5)
R31W (p.Arg31Trp) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from ClinVar 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 0.83 / 1. The record also includes population frequency data.
R31W (p.Arg31Trp) variant details
- p.Arg31Trp
- NCI-TCGA Cosmic COSV6390
- cosmic curated COSV63905
- ExAC rs764109577
- gnomAD rs764109577
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 0.96
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)