CCDC51 p.Pro44=
c.132C>T · rs61746705 · VCV784002
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.85%, 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 -0.94 | GERP -2.9 |
| Overall | ||
| CADD | 4.439 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.85%
African / African-American · 1,388/75,076 alleles
Filtering AF
1.77%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.74%
Overall
0.0982%
1,585/1,614,218 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.85% | 54 |
| Remaining individualsnot grpmax-eligible | 0.139% | 718 |
| Admixed American | 0.128% | 780 |
| Middle Eastern | 0.0165% | 6,062 |
| East Asian | 0.0134% | 7,481 |
| South Asian | 0.00768% | 13,013 |
| European (non-Finnish) | 0.00161% | 62,107 |
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
- CCDC51
- Protein
- p.Pro44=
- Coding
- c.132C>T
- MANE Select
- NM_001256964
- dbSNP
- rs61746705
- Type
- single nucleotide variant
- Location
- chr3:48434997 (GRCh38)
- Gene constraint
- LOEUF 1.262 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.21
Similar variants
- CCDC51 p.Arg165Cys Benign ★★ ⚠ same type
- CCDC51 p.Gln323Arg Benign ★★ same type
- CCDC51 p.Ala105Thr Uncertain significance ★ same type
- CCDC51 p.Ala112Ser Uncertain significance ★ ⚠ same type
- CCDC51 p.Ala171Val Uncertain significance ★ ⚠ same type
- CCDC51 p.Ala252Thr Uncertain significance ★ ⚠ same type
- CCDC51 p.Ala252Val Uncertain significance ★ ⚠ same type
- CCDC51 p.Ala286Ser 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/ccdc51-p-pro44 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown