P60R (p.Pro60Arg) variant of CD19 (B-lymphocyte antigen CD19)
P60R (p.Pro60Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P60R (p.Pro60Arg) variant details
- p.Pro60Arg
- rs1349878263
- ClinGen CA395429901
- ClinVar RCV002903262
- gnomAD rs1349878263
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.23
- MetaLR 0.16
- MetaSVM -0.92
- CADD 18.60
- PolyPhen-2 0.87
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available