CIT p.Pro1985=
c.5955G>T · rs139121341 · VCV786235
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.73%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.035 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -9.8 | GERP -3.7 |
| Overall | ||
| CADD | 0.59 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.73%
African / African-American · 1,294/74,892 alleles
Filtering AF
1.65%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.62%
Overall
0.0968%
1,545/1,596,536 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.73% | 58 |
| Admixed American | 0.168% | 595 |
| Remaining individualsnot grpmax-eligible | 0.168% | 597 |
| Middle Eastern | 0.0992% | 1,008 |
| South Asian | 0.01% | 9,996 |
| European (non-Finnish) | 0.0028% | 35,684 |
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
- CIT
- Protein
- p.Pro1985=
- Coding
- c.5955G>T
- MANE Select
- NM_001206999
- dbSNP
- rs139121341
- Type
- single nucleotide variant
- Location
- chr12:119690382 (GRCh38)
- Gene constraint
- LOEUF 0.353 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.75
- Residue 1985
- the 'disordered' region
Similar variants
- CIT p.Pro1985Leu Uncertain significance ★ ⚠ same residue
- CIT p.Arg1178Ter Pathogenic ★★ same type
- CIT p.Arg220Ter Pathogenic ★★ same type
- CIT c.4168+5G>A Uncertain significance ★★ same type
- CIT p.Ala1144Thr Uncertain significance ★★ ⚠ same type
- CIT p.Ala1466Asp Uncertain significance ★★ ⚠ same type
- CIT p.Ala1527Val Uncertain significance ★★ ⚠ same type
- CIT p.Ala244Val 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/cit-p-pro1985 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown