LRBA p.Lys280fs
c.839del · rs1553998602 · VCV444642
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 7 of 57 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.014 | GERP -1.1, phastCons 0.82 |
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
- LRBA
- Protein
- p.Lys280fs
- Coding
- c.839del
- MANE Select
- NM_001364905
- dbSNP
- rs1553998602
- Type
- Deletion
- Location
- chr4:150916456 (GRCh38)
- Gene constraint
- LOEUF 0.515 · pLI <0.01 (gnomAD)
Similar variants
- MAB21L2 p.Tyr280Ter Pathogenic ★ same residue
- LRBA p.Lys280Asn Uncertain significance ⚠ same residue
- LRBA c.1923_1924+11del Likely pathogenic ★★ same type
- LRBA p.Asp1329fs Pathogenic/Likely pathogenic ★★ same type
- LRBA p.Glu945_Glu946insTer Pathogenic ★★ same type
- LRBA p.Ser2079fs Pathogenic/Likely pathogenic ★★ same type
- LRBA p.Thr1587fs Likely pathogenic ★★ same type
- LRBA c.1015-10del Benign/Likely benign ★★ 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/lrba-p-lys280fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown