S13I (p.Ser13Ile) variant of PAX5 (Paired box protein Pax-5)
S13I (p.Ser13Ile) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
S13I (p.Ser13Ile) variant details
- p.Ser13Ile
- gnomAD rs1249107807
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.28
- MetaLR 0.90
- MetaSVM 0.96
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the African/African-American population (allele frequency 2.4e-05)