LRBA p.Asp154fs
c.459del · rs2149508421 · VCV1338654
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 4 of 57 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 2.7, 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
- LRBA
- Protein
- p.Asp154fs
- Coding
- c.459del
- MANE Select
- NM_001364905
- dbSNP
- rs2149508421
- Type
- Deletion
- Location
- chr4:150928606 (GRCh38)
- Gene constraint
- LOEUF 0.515 · pLI <0.01 (gnomAD)
Similar variants
- 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
- LRBA c.217-10del Benign/Likely benign ★★ same type
- LRBA c.4570-6del 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-asp154fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown