S13N (p.Ser13Asn) variant of PAX5 (Paired box protein Pax-5)
S13N (p.Ser13Asn) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
S13N (p.Ser13Asn) variant details
- p.Ser13Asn
- cosmic curated COSV63914
- gnomAD rs1249107807
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.23
- MetaLR 0.83
- MetaSVM 0.35
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)