K98N (p.Lys98Asn) variant of PAX5 (Paired box protein Pax-5)
K98N (p.Lys98Asn) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
K98N (p.Lys98Asn) variant details
- p.Lys98Asn
- cosmic curated COSV10081
- gnomAD rs1212636536
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.81
- AlphaMissense 0.10
- MetaLR 0.89
- MetaSVM 0.57
- CADD 24.00
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)