RIPK1 p.Val91del
c.271_273del · VCV4813553
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
immunodeficiency 57
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 3.3 | GERP 1.4, phastCons 1 |
Variant & gene context
- Gene
- RIPK1
- Protein
- p.Val91del
- Coding
- c.271_273del
- MANE Select
- NM_001354930
- Type
- Deletion
- Location
- chr6:3077883 (GRCh38)
- Gene constraint
- LOEUF 0.6 · pLI 0.21 (gnomAD)
- Structure
- AlphaFold pLDDT 70.38 · 39 PDB
- Residue 91
- the protein kinase domain; a β-strand
Similar variants
- RIPK1 p.Arg177fs Pathogenic ★★ same condition
- RIPK1 p.Arg591fs Likely pathogenic ★ same condition
- RIPK1 c.460-133_689-244del Pathogenic same condition
- RIPK1 c.688_688+20del Pathogenic same condition
- RIPK1 p.Met318fs Pathogenic/Likely pathogenic same condition
- RIPK1 c.460-5C>A Uncertain significance ★★ same condition
- RIPK1 p.Arg621Gln Uncertain significance ★★ ⚠ same condition
- RIPK1 p.Gln375Lys Uncertain significance ★★ same condition
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/ripk1-p-val91del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown