CFC1 p.Pro75=
c.225C>A · rs55791556 · VCV136734
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,613,844)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.23 | |
| Overall | ||
| CADD | 6.068 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,613,844). 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
- CFC1
- Protein
- p.Pro75=
- Coding
- c.225C>A
- MANE Select
- NM_032545
- dbSNP
- rs55791556
- Type
- single nucleotide variant
- Location
- chr2:130598664 (GRCh38)
- Gene constraint
- LOEUF 0.586 · pLI 0.86 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 64.18
Similar variants
- CFC1 p.Gly33Ser Uncertain significance ★★ ⚠ same type
- CFC1 p.Ala145Thr Benign ★★ same type
- CFC1 p.Arg47Gln Benign ★★ same type
- CFC1 p.Asn21= Benign/Likely benign ★★ same type
- CFC1 p.Asn21His Benign ★★ same type
- CFC1 p.Gly59Arg Likely benign ★★ same type
- CFC1 p.Leu202= Benign/Likely benign ★★ same type
- CFC1 p.Ala195Val 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/cfc1-p-pro75 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown