CFB p.Val734fs
c.2200del · VCV4732419
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.86 | GERP -1.4 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CFB
- Protein
- p.Val734fs
- Coding
- c.2200del
- MANE Select
- NM_001710
- Type
- Deletion
- Location
- chr6:31951934 (GRCh38)
- Gene constraint
- LOEUF 0.719 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.54 · 28 PDB
- Residue 734
- the peptidase s1 domain
Similar variants
- CFB p.Val734Glu Uncertain significance ★ ⚠ same residue
- CFB p.Val734Leu Uncertain significance ★ ⚠ same residue
- CFB p.Ile297fs Likely pathogenic ★ same type
- CFB c.1409-10_1409-8del Uncertain significance ★ same type
- CFB c.2139+13_2139+18del Uncertain significance ★ same type
- CFB p.Asn460fs Uncertain significance ★ same type
- CFB p.Asp723fs Uncertain significance ★ same type
- CFB p.Glu243del 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/cfb-p-val734fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown