ATRAID c.-44C>G
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00411%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.106 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.24 | GERP -1.2 |
| Non-coding constraint | Z 2.19 | 1 kb window · o/e 0.82 · regional · uncalibrated |
| Overall | ||
| CADD | 12.0 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00411%
African / African-American · 3/73,076 alleles
Filtering AF
0.00109%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000502%
Overall
0.000323%
5/1,549,204 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00411% | 24,359 |
| European (non-Finnish) | 0.000174% | 573,105 |
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
- ATRAID
- Coding
- c.-44C>G
- MANE Select
- NM_001170795
- dbSNP
- rs1274336481
- Type
- single nucleotide variant
- Location
- chr2:27212325 (GRCh38)
- Gene constraint
- LOEUF 1.235 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.31
Similar variants
- ATRAID c.-117C>A Uncertain significance ★ same type
- ATRAID c.-123A>C Uncertain significance ★ same type
- ATRAID c.-155G>A Uncertain significance ★ same type
- ATRAID c.-161A>G Uncertain significance ★ same type
- ATRAID c.-24A>T Uncertain significance ★ same type
- ATRAID c.-38C>T Uncertain significance ★ same type
- ATRAID c.-71G>A Uncertain significance ★ same type
- ATRAID c.-74G>C 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/atraid-c-minus-44c-g (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown