G85V (p.Gly85Val) variant of PAX5 (Paired box protein Pax-5)
G85V (p.Gly85Val) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data.
G85V (p.Gly85Val) variant details
- p.Gly85Val
- rs1254060202
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10081
- gnomAD rs1254060202
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.98
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- CADD 27.00
- PolyPhen-2 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)