P60S (p.Pro60Ser) variant of CD19 (B-lymphocyte antigen CD19)
P60S (p.Pro60Ser) in CD19 (B-lymphocyte antigen CD19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Immunodeficiency, common variable, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P60S (p.Pro60Ser) variant details
- p.Pro60Ser
- rs1010611591
- ClinGen CA279269423
- ClinVar RCV001027775
- ClinVar RCV001862416
- Uncertain significance
- not provided; Immunodeficiency, common variable, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.03
- CADD 7.96
- PolyPhen-2 0.08
- SIFT 0.24
- ClinVar: Uncertain significance (not provided; Immunodeficiency, common variable, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available