CCDC174 p.Pro327=
c.981G>A · rs138874628 · VCV734890
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.22%, afr)
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 -0.43 | GERP -5.6 |
| Overall | ||
| CADD | 6.157 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.22%
African / African-American · 165/74,958 alleles
Filtering AF
0.193%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.182%
Overall
0.0252%
406/1,613,722 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.22% | 454 |
| Remaining individualsnot grpmax-eligible | 0.04% | 2,499 |
| European (non-Finnish) | 0.0173% | 5,784 |
| Admixed American | 0.00834% | 11,992 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00676% | 14,797 |
| South Asian | 0.00439% | 22,760 |
| East Asian | 0.00223% | 44,858 |
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
- CCDC174
- Protein
- p.Pro327=
- Coding
- c.981G>A
- MANE Select
- NM_016474
- dbSNP
- rs138874628
- Type
- single nucleotide variant
- Location
- chr3:14669962 (GRCh38)
- Gene constraint
- LOEUF 0.926 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.79
- Residue 327
- the 'disordered' region
Similar variants
- CCDC174 p.Pro327Leu Likely benign ★ ⚠ same residue
- CCDC174 p.Asp395His Uncertain significance ★★ ⚠ same type
- CCDC174 p.Phe29Ser Uncertain significance ★★ ⚠ same type
- CCDC174 p.Pro158Ser Uncertain significance ★★ ⚠ same type
- CCDC174 c.1106-10T>A Benign/Likely benign ★★ same type
- CCDC174 c.308-55C>A Benign ★★ same type
- CCDC174 c.485+47G>A Benign ★★ same type
- CCDC174 c.485+83C>G 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/ccdc174-p-pro327 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown