Y7C (p.Tyr7Cys) variant of PAX5 (Paired box protein Pax-5)
Y7C (p.Tyr7Cys) 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 0.56 / 1. The record also includes population frequency data.
Y7C (p.Tyr7Cys) variant details
- p.Tyr7Cys
- cosmic curated COSV10744
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.53
- AlphaMissense 0.08
- MetaLR 0.74
- MetaSVM 0.41
- CADD 23.60
- PolyPhen-2 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available