DAPK3 p.Ala198=
c.594G>A · rs138197908 · VCV733490
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.351%, nfe)
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 -20 | GERP -4.5 |
| Overall | ||
| CADD | 3.115 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.351%
European (non-Finnish) · 4,103/1,168,092 alleles
Filtering AF
0.342%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.339%
Overall
0.292%
4,674/1,598,894 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.351% | 285 |
| Finnishnot grpmax-eligible | 0.306% | 327 |
| Remaining individualsnot grpmax-eligible | 0.3% | 333 |
| Ashkenazi Jewishnot grpmax-eligible | 0.2% | 499 |
| Admixed American | 0.156% | 640 |
| African / African-American | 0.0442% | 2,264 |
| Middle Eastern | 0.0165% | 6,044 |
| South Asian | 0.00444% | 22,500 |
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
- DAPK3
- Protein
- p.Ala198=
- Coding
- c.594G>A
- MANE Select
- NM_001348
- dbSNP
- rs138197908
- Type
- single nucleotide variant
- Location
- chr19:3963879 (GRCh38)
- Gene constraint
- LOEUF 1.182 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.22 · 7 PDB
- Residue 198
- the protein kinase domain; the 'activation segment' region; an α-helix
Similar variants
- DAPK3 p.Ala170Val Uncertain significance ★ ⚠ same type
- DAPK3 p.Ala267Val Uncertain significance ★ ⚠ same type
- DAPK3 p.Ala332Glu Uncertain significance ★ ⚠ same type
- DAPK3 p.Ala355Ser Uncertain significance ★ ⚠ same type
- DAPK3 p.Ala390Val Uncertain significance ★ ⚠ same type
- DAPK3 p.Ala395Pro Uncertain significance ★ ⚠ same type
- DAPK3 p.Ala428Val Uncertain significance ★ ⚠ same type
- DAPK3 p.Arg134Cys 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/dapk3-p-ala198 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown