G81W (p.Gly81Trp) variant of PAX5 (Paired box protein Pax-5)
G81W (p.Gly81Trp) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data.
G81W (p.Gly81Trp) variant details
- p.Gly81Trp
- Ensembl rs2132472595
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.93
- MetaLR 0.99
- MetaSVM 1.00
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)