CTIF p.Ala63=
c.189G>A · rs35875164 · VCV771922
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.3%, mid)
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 -2.7 | GERP -4.2 |
| Overall | ||
| CADD | 8.504 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.3%
Middle Eastern · 255/5,936 alleles
Filtering AF
3.86%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.69%
Overall
0.664%
10,509/1,583,110 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 4.3% | 23 |
| Ashkenazi Jewishnot grpmax-eligible | 1% | 100 |
| Remaining individualsnot grpmax-eligible | 0.793% | 126 |
| European (non-Finnish) | 0.715% | 140 |
| Admixed American | 0.682% | 147 |
| South Asian | 0.582% | 172 |
| Finnishnot grpmax-eligible | 0.232% | 431 |
| African / African-American | 0.146% | 684 |
| Amishnot grpmax-eligible | 0.11% | 912 |
| East Asian | 0.03% | 3,329 |
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.Ala63=
- Coding
- c.189G>A
- MANE Select
- NM_014772
- dbSNP
- rs35875164
- Type
- single nucleotide variant
- Location
- chr18:48636622 (GRCh38)
- Gene constraint
- LOEUF 0.487 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 63.13
- Residue 63
- the 'interaction with ncbp1/cbp80' region; the 'disordered' region
Similar variants
- CTIF c.326+4A>G Benign ★★ same type
- CTIF p.Ile277= 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-ala63 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown