LITAF p.Ser121Ile
c.362_363delinsTT · VCV4536137
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 3.2 | GERP -1.1, phastCons 1 |
| Regional constraint | o/e 0.97 | unconstrained · MANE · 7,090 bp · p 0.61 · regional, not allelic |
Variant & gene context
- Gene
- LITAF
- Protein
- p.Ser121Ile
- Coding
- c.362_363delinsTT
- MANE Select
- NM_001136472
- Type
- Indel
- Location
- chr16:11553547 (GRCh38)
- Gene constraint
- LOEUF 1.017 · pLI 0.02 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 70.60
- Residue 121
- the litaf domain; the 'membrane-binding amphipathic helix' region
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/litaf-p-ser121ile (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown