V26F (p.Val26Phe) variant of PAX5 (Paired box protein Pax-5)
V26F (p.Val26Phe) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data.
V26F (p.Val26Phe) variant details
- p.Val26Phe
- NCI-TCGA Cosmic COSV6390
- NCI-TCGA TCGA novel
- cosmic curated COSV63906
- Ensembl rs2132503670
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.91
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- CADD 26.00
- PolyPhen-2 1.00
- UniProt: Variant assessed as somatic; high impact. (in dbSNP:rs926053251)
- Most common in the Non-Finnish European population (allele frequency 9e-07)