CIART p.Gln162=
c.486G>A · rs137955605 · VCV788717
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.753%, nfe)
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 3.7 | GERP -0.52, phastCons 1 |
| Overall | ||
| CADD | 8.296 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.753%
European (non-Finnish) · 8,878/1,179,102 alleles
Filtering AF
0.74%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.734%
Overall
0.587%
9,476/1,613,186 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.753% | 133 |
| Remaining individualsnot grpmax-eligible | 0.362% | 276 |
| Admixed American | 0.25% | 400 |
| Finnishnot grpmax-eligible | 0.169% | 593 |
| African / African-American | 0.1% | 1,000 |
| Middle Eastern | 0.099% | 1,010 |
| South Asian | 0.0296% | 3,373 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0203% | 4,934 |
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
- CIART
- Protein
- p.Gln162=
- Coding
- c.486G>A
- MANE Select
- NM_144697
- dbSNP
- rs137955605
- Type
- single nucleotide variant
- Location
- chr1:150284469 (GRCh38)
- Gene constraint
- LOEUF 0.606 · pLI 0.82 (gnomAD)
- Structure
- AlphaFold pLDDT 55.07
Similar variants
- CIART p.Ala255Pro Uncertain significance ★ ⚠ same type
- CIART p.Ala255Val Uncertain significance ★ ⚠ same type
- CIART p.Ala359Pro Uncertain significance ★ ⚠ same type
- CIART p.Ala377Val Uncertain significance ★ ⚠ same type
- CIART p.Ala380Ser Uncertain significance ★ ⚠ same type
- CIART p.Arg160Ser Uncertain significance ★ ⚠ same type
- CIART p.Arg367Gln Uncertain significance ★ ⚠ same type
- CIART p.Arg83Gln 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/ciart-p-gln162 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown