P10L (p.Pro10Leu) variant of PAX5 (Paired box protein Pax-5)
P10L (p.Pro10Leu) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- cosmic curated COSV63910
- TOPMed rs921644175
- gnomAD rs921644175
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.34
- AlphaMissense 0.10
- MetaLR 0.74
- MetaSVM 0.51
- CADD 23.20
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00046)