V26D (p.Val26Asp) variant of PAX5 (Paired box protein Pax-5)
V26D (p.Val26Asp) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data.
V26D (p.Val26Asp) variant details
- p.Val26Asp
- Ensembl rs926053251
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.93
- MetaLR 0.99
- MetaSVM 0.99
- CADD 29.80
- PolyPhen-2 0.97
- SIFT 0.02
- EBI: Likely pathogenic (in dbSNP:rs926053251)
- UniProt: Likely pathogenic (in dbSNP:rs926053251)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)