ATF4 p.Tyr200=
c.600C>T · rs61737791 · VCV783890
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 5.99%, afr) — too common for a highly-penetrant pathogenic allele
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 -8.9 | GERP -3.1 |
| Overall | ||
| CADD | 0.017 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
5.99%
African / African-American · 4,488/74,966 alleles
Filtering AF
5.84%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5.78%
Overall
0.336%
5,427/1,613,666 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 5.99% | 17 |
| Middle Eastern | 0.529% | 189 |
| Remaining individualsnot grpmax-eligible | 0.454% | 220 |
| Admixed American | 0.365% | 274 |
| European (non-Finnish) | 0.0326% | 3,064 |
| South Asian | 0.0132% | 7,588 |
| Finnishnot grpmax-eligible | 0.00937% | 10,670 |
| East Asian | 0.00223% | 44,878 |
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
- ATF4
- Protein
- p.Tyr200=
- Coding
- c.600C>T
- MANE Select
- NM_182810
- dbSNP
- rs61737791
- Type
- single nucleotide variant
- Location
- chr22:39522146 (GRCh38)
- Gene constraint
- LOEUF 0.718 · pLI 0.38 (gnomAD)
- Structure
- AlphaFold pLDDT 62.95 · 2 PDB
Similar variants
- ATF4 p.Ala324Val Benign ★★ same type
- ATF4 p.Asn131= Benign ★★ same type
- ATF4 p.Glu322Asp Benign ★★ ⚠ same type
- ATF4 p.Glu3Lys Benign ★★ ⚠ same type
- ATF4 p.Ile208Met Likely benign ★★ ⚠ same type
- ATF4 p.Pro258Ala Benign ★★ same type
- ATF4 p.Thr137Ser Likely benign ★★ same type
- ATF4 p.Val201Ile Benign ★★ 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/atf4-p-tyr200 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown