CD19 p.Arg321fs
c.960del · rs1964759975 · VCV987364
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 6 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.8 | phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- CD19
- Protein
- p.Arg321fs
- Coding
- c.960del
- MANE Select
- NM_001770
- dbSNP
- rs1964759975
- Type
- Deletion
- Location
- chr16:28936165 (GRCh38)
- Gene constraint
- LOEUF 0.627 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 62.99 · 4 PDB
Similar variants
- CD19 p.Arg321Lys Uncertain significance ★★ ⚠ same residue
- CD19 p.Gly546fs Uncertain significance ★★ same type
- CD19 c.1199-3_1202del Likely pathogenic ★ same type
- CD19 c.1085-9del Likely benign ★ same type
- CD19 c.1199-11del Benign ★ same type
- CD19 c.1199-3del Likely benign ★ same type
- CD19 c.356-3del Likely benign ★ same type
- CD19 p.Ser489fs Pathogenic same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cd19-p-arg321fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown