LRRC8A p.Phe324del
c.971_973del · rs2131021036 · VCV1380532
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
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 7.7 | GERP 1, phastCons 1 |
Population frequency
dbSNP / gnomAD
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
- LRRC8A
- Protein
- p.Phe324del
- Coding
- c.971_973del
- MANE Select
- NM_019594
- dbSNP
- rs2131021036
- Type
- Deletion
- Location
- chr9:128908133 (GRCh38)
- Gene constraint
- LOEUF 0.614 · pLI 0.06 (gnomAD)
- Structure
- AlphaFold pLDDT 85.52 · 13 PDB
- Residue 324
- an α-helix
Similar variants
- LRRC8A c.2157+6del Uncertain significance ★ same type
- LRRC8A p.Gln381fs Uncertain significance ★ same type
- LRRC8A p.Leu756fs Uncertain significance ★ same type
- LRRC8A p.Thr44fs Uncertain significance ★ same type
- LRRC8A p.Tyr30del 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/lrrc8a-p-phe324del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown