ATAD3A p.Pro583=
c.1749C>T · rs138170400 · VCV719313
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.752%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.034 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.84 | GERP -2.1 |
| Overall | ||
| CADD | 0.397 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.752%
European (non-Finnish) · 8,868/1,179,820 alleles
Filtering AF
0.739%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.733%
Overall
0.62%
10,010/1,613,346 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.752% | 133 |
| Middle Eastern | 0.563% | 178 |
| Amishnot grpmax-eligible | 0.548% | 182 |
| Remaining individualsnot grpmax-eligible | 0.536% | 187 |
| South Asian | 0.314% | 318 |
| Finnishnot grpmax-eligible | 0.288% | 347 |
| Admixed American | 0.238% | 420 |
| Ashkenazi Jewishnot grpmax-eligible | 0.22% | 455 |
| African / African-American | 0.12% | 833 |
| East Asian | 0.00223% | 44,874 |
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
- ATAD3A
- Protein
- p.Pro583=
- Coding
- c.1749C>T
- MANE Select
- NM_001170535
- dbSNP
- rs138170400
- Type
- single nucleotide variant
- Location
- chr1:1534060 (GRCh38)
- Gene constraint
- LOEUF 0.861 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.35
- Residue 583
- a UniProt-annotated variant site (in phrinl)
Similar variants
- ATAD3A p.Pro583_Pro585delinsGlnProSer Uncertain significance ★ same residue
- ATAD3A c.1266+1G>A Likely pathogenic ★★ same type
- ATAD3A c.384+1G>A Likely pathogenic ★★ same type
- ATAD3A p.Arg528Gln Likely pathogenic ★★ ⚠ same type
- ATAD3A p.Arg528Trp Pathogenic/Likely pathogenic ★★ ⚠ same type
- ATAD3A c.282+5G>A Uncertain significance ★★ same type
- ATAD3A c.283-3C>T Uncertain significance ★★ same type
- ATAD3A c.385-3C>G 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/atad3a-p-pro583 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown