CFI p.Lys257=
c.771A>G · rs2545435657 · VCV3066109
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,570,802)
Conditions
1
atypical hemolytic-uremic syndrome with I factor anomaly
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.80 | donor loss, 1 bp away · masked 0 · deltas |
|---|---|---|
| Pangolin | Δ0.72 | loss · gain 0.12 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 4.1 | GERP 1.5, phastCons 1 |
| Overall | ||
| CADD | 18.53 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,570,802). 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
- CFI
- Protein
- p.Lys257=
- Coding
- c.771A>G
- MANE Select
- NM_000204
- dbSNP
- rs2545435657
- Type
- single nucleotide variant
- Location
- chr4:109760524 (GRCh38)
- Gene constraint
- LOEUF 1.076 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.50 · 2 PDB
- Residue 257
- the ldl-receptor class a 1 domain; a β-strand
Similar variants
- CFI p.Lys257Thr Uncertain significance ★ ⚠ same residue
- CFI c.1429+1G>C Pathogenic/Likely pathogenic ★★ same condition
- CFI c.57+1G>C Likely pathogenic ★★ same condition
- CFI c.905-1G>C Likely pathogenic ★★ same condition
- CFI p.Ala258Thr Pathogenic/Likely pathogenic ★★ ⚠ same condition
- CFI p.Arg187Ter Pathogenic/Likely pathogenic ★★ same condition
- CFI p.Arg474Ter Pathogenic/Likely pathogenic ★★ same condition
- CFI c.773-3C>T 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/cfi-p-lys257 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown