CFHR4 p.Val82Ile
c.243_244delinsAA · VCV3380380
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 0.044 | GERP -0.79 |
| Regional constraint | o/e 0.99 | unconstrained · MANE · 27 kb · p 0.86 · regional, not allelic |
Variant & gene context
- Gene
- CFHR4
- Protein
- p.Val82Ile
- Coding
- c.243_244delinsAA
- MANE Select
- NM_001201550
- Type
- Indel
- Location
- chr1:196902602 (GRCh38)
- Gene constraint
- LOEUF 1.204 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.75
- Residue 82
- the sushi 1 domain
Similar variants
- CFHR4 c.998-18_998-17delinsTG Likely 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/cfhr4-p-val82ile (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown