CFC1 p.Pro196=
c.588C>A · rs587780885 · VCV136736
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 3 submitters
gnomAD v4.1
Common
common (popmax 16.9%, afr) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Overall | ||
| CADD | 4.975 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
16.9%
African / African-American · 4,140/24,494 alleles
Filtering AF
16.5%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 16.3%
Overall
1.07%
5,357/499,694 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 16.9% | 6 |
| Admixed American | 1.77% | 56 |
| Remaining individualsnot grpmax-eligible | 1.73% | 58 |
| Middle Eastern | 1.22% | 82 |
| Ashkenazi Jewishnot grpmax-eligible | 0.461% | 217 |
| European (non-Finnish) | 0.0779% | 1,284 |
| South Asian | 0.0353% | 2,837 |
| Finnishnot grpmax-eligible | 0.0228% | 4,391 |
| East Asian | 0.00298% | 33,520 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CFC1
- Protein
- p.Pro196=
- Coding
- c.588C>A
- MANE Select
- NM_032545
- dbSNP
- rs587780885
- Type
- single nucleotide variant
- Location
- chr2:130592961 (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-pro196 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown