CTIF p.Ile277=
c.831C>T · rs116794939 · VCV786340
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.43%, 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 -0.57 | GERP -3.5 |
| Overall | ||
| CADD | 6.649 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.43%
African / African-American · 1,076/74,992 alleles
Filtering AF
1.36%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.33%
Overall
0.118%
1,898/1,613,986 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.43% | 70 |
| Middle Eastern | 0.346% | 289 |
| Ashkenazi Jewishnot grpmax-eligible | 0.304% | 329 |
| Admixed American | 0.232% | 432 |
| Remaining individualsnot grpmax-eligible | 0.187% | 534 |
| European (non-Finnish) | 0.0373% | 2,682 |
| Finnishnot grpmax-eligible | 0.0141% | 7,107 |
| South Asian | 0.00549% | 18,210 |
| 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
- CTIF
- Protein
- p.Ile277=
- Coding
- c.831C>T
- MANE Select
- NM_014772
- dbSNP
- rs116794939
- Type
- single nucleotide variant
- Location
- chr18:48758165 (GRCh38)
- Gene constraint
- LOEUF 0.487 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 63.13
- Residue 277
- the 'interaction with ncbp1/cbp80' region; the 'disordered' region
Similar variants
- CTIF c.326+4A>G Benign ★★ same type
- CTIF p.Ala63= Benign ★★ same type
- CTIF c.1071+5C>T Uncertain significance ★ same type
- CTIF p.Ala181Thr Uncertain significance ★ ⚠ same type
- CTIF p.Ala271Val Uncertain significance ★ ⚠ same type
- CTIF p.Ala304Thr Uncertain significance ★ ⚠ same type
- CTIF p.Ala428Thr Uncertain significance ★ ⚠ same type
- CTIF p.Ala9Pro 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/ctif-p-ile277 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown