R14S (p.Arg14Ser) variant of PAX5 (Paired box protein Pax-5)
R14S (p.Arg14Ser) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
R14S (p.Arg14Ser) variant details
- p.Arg14Ser
- NCI-TCGA Cosmic COSV6390
- cosmic curated COSV63906
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.53
- MetaLR 0.83
- MetaSVM 0.42
- CADD 23.60
- PolyPhen-2 0.88
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available