ATAD3A p.Arg579Pro
c.1736_1737delinsCC · rs2520920754 · VCV2230279
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.039 | GERP -2.2 |
| Regional constraint | o/e 0.90 | unconstrained · MANE · 9,713 bp · p 0.11 · regional, not allelic |
| Region caveats | ||
| Repeat context | seg dup | · reads may not map uniquely · confidence, not pathogenicity |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- ATAD3A
- Protein
- p.Arg579Pro
- Coding
- c.1736_1737delinsCC
- MANE Select
- NM_001170535
- dbSNP
- rs2520920754
- Type
- Indel
- Location
- chr1:1534047 (GRCh38)
- Gene constraint
- LOEUF 0.861 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.35
- Residue 579
- a UniProt-annotated variant site (in phrinl)
Similar variants
- ATAD3A p.Arg579His Likely benign ★★ same residue
- ATAD3A p.Arg579Cys Uncertain significance ★ same residue
- ATAD3A p.Arg579= Likely benign ★ same residue
- ATAD3A p.Ala62Val Uncertain significance ★★ ⚠ same condition
- ATAD3A p.Arg138Trp Uncertain significance ★★ same condition
- ATAD3A p.Arg188Gln Uncertain significance ★★ ⚠ same condition
- ATAD3A p.Arg208Cys Uncertain significance ★★ same condition
- ATAD3A p.Arg212Cys Uncertain significance ★★ ⚠ same condition
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-arg579pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown