ATP2A3 p.Pro784=
c.2352C>T · rs151095860 · VCV3041599
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.628%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.42 | acceptor gain · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -5.5 | GERP -3.8 |
| Overall | ||
| CADD | 16.33 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.628%
Middle Eastern · 38/6,048 alleles
Filtering AF
0.471%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.416%
Overall
0.107%
1,729/1,614,044 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.628% | 159 |
| South Asian | 0.312% | 321 |
| Remaining individualsnot grpmax-eligible | 0.128% | 781 |
| European (non-Finnish) | 0.106% | 945 |
| Admixed American | 0.0717% | 1,395 |
| East Asian | 0.0312% | 3,205 |
| African / African-American | 0.0213% | 4,689 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0169% | 5,922 |
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
- ATP2A3
- Protein
- p.Pro784=
- Coding
- c.2352C>T
- MANE Select
- NM_005173
- dbSNP
- rs151095860
- Type
- single nucleotide variant
- Location
- chr17:3936439 (GRCh38)
- Gene constraint
- LOEUF 0.759 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.75
Similar variants
- ATP2A3 c.2525-6C>G Likely benign ★★ same type
- ATP2A3 p.Ala299= Likely benign ★★ same type
- ATP2A3 p.Arg491= Benign ★★ same type
- ATP2A3 p.Arg560= Benign/Likely benign ★★ same type
- ATP2A3 p.Arg674Cys Likely benign ★★ ⚠ same type
- ATP2A3 p.Ile716= Benign/Likely benign ★★ same type
- ATP2A3 p.Ser877= Benign ★★ same type
- ATP2A3 c.2611-1G>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/atp2a3-p-pro784 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown