P10A (p.Pro10Ala) variant of PAX5 (Paired box protein Pax-5)
P10A (p.Pro10Ala) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
P10A (p.Pro10Ala) variant details
- p.Pro10Ala
- gnomAD rs1254538004
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.36
- MetaLR 0.77
- MetaSVM 0.36
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available