CCDC174 p.Pro44=
c.132A>G · rs181875050 · VCV729670
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.995%, 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 0.074 | GERP -3, phastCons 0.051 |
| Overall | ||
| CADD | 7.415 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.995%
African / African-American · 722/72,532 alleles
Filtering AF
0.935%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.911%
Overall
0.0537%
810/1,508,744 alleles · rare
exomes 391/1,356,394 · genomes 419/152,350 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.995% | 100 |
| Remaining individualsnot grpmax-eligible | 0.0713% | 1,402 |
| Admixed American | 0.0593% | 1,686 |
| Middle Eastern | 0.0365% | 2,740 |
| South Asian | 0.00818% | 12,229 |
| European (non-Finnish) | 0.000275% | 363,811 |
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.Pro44=
- Coding
- c.132A>G
- MANE Select
- NM_016474
- dbSNP
- rs181875050
- Type
- single nucleotide variant
- Location
- chr3:14654515 (GRCh38)
- Gene constraint
- LOEUF 0.926 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.79
- Residue 44
- the 'disordered' region
Similar variants
- 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
- CCDC174 c.485+83C>T 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-pro44 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown