P57L (p.Pro57Leu) variant of CD19 (B-lymphocyte antigen CD19)
P57L (p.Pro57Leu) 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 0.16 / 1. The record also includes population frequency data and structural context.
P57L (p.Pro57Leu) variant details
- p.Pro57Leu
- rs185062613
- ClinGen CA7988301
- cosmic curated COSV61188
- ClinVar RCV001311439
- Uncertain significance
- not provided; Immunodeficiency, common variable, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.03
- MetaLR 0.07
- MetaSVM -1.01
- CADD 4.56
- PolyPhen-2 0.00
- SIFT 0.11
- 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