LRBA p.Asp808Val
c.2423_2424delinsTA · VCV4968809
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.5 | GERP -2.3, phastCons 1 |
| Regional constraint | o/e 0.95 | unconstrained · MANE · 749 kb · p 0.0015 · regional, not allelic |
Variant & gene context
- Gene
- LRBA
- Protein
- p.Asp808Val
- Coding
- c.2423_2424delinsTA
- MANE Select
- NM_001364905
- Type
- Indel
- Location
- chr4:150870550 (GRCh38)
- Gene constraint
- LOEUF 0.515 · pLI <0.01 (gnomAD)
Similar variants
- LRBA p.Ala1626Leu Uncertain significance ★★ same type
- LRBA p.Arg424fs Pathogenic ★ same type
- LRBA p.Glu855Ter Pathogenic ★ same type
- LRBA p.Ser2090Ter Pathogenic ★ same type
- LRBA p.Ala2693Met Uncertain significance ★ same type
- LRBA p.Lys2163Ser Uncertain significance ★ same type
- LRBA p.Tyr2659Ser Uncertain significance ★ 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-asp808val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown