CIT p.Ser803=
c.2409C>T · rs138651199 · VCV2154852
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0497%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.268 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -2.8 | GERP -4.2 |
| Overall | ||
| CADD | 8.04 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0497%
European (non-Finnish) · 586/1,177,950 alleles
Filtering AF
0.0463%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.045%
Overall
0.0393%
634/1,611,842 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0497% | 2,010 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0372% | 2,691 |
| Remaining individualsnot grpmax-eligible | 0.0288% | 3,468 |
| Admixed American | 0.015% | 6,667 |
| African / African-American | 0.008% | 12,498 |
| Finnishnot grpmax-eligible | 0.00312% | 32,014 |
| East Asian | 0.00223% | 44,874 |
| South Asian | 0.0011% | 91,014 |
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.Ser803=
- Coding
- c.2409C>T
- MANE Select
- NM_001206999
- dbSNP
- rs138651199
- Type
- single nucleotide variant
- Location
- chr12:119760951 (GRCh38)
- Gene constraint
- LOEUF 0.353 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.75
Similar variants
- 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
- CIT p.Ala495Ser 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-ser803 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown