DAPK2 p.Arg366=
c.1098G>A · rs113007196 · VCV741212
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.31%, afr)
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 0.55 | GERP -1, phastCons 1 |
| Overall | ||
| CADD | 8.907 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.31%
African / African-American · 232/74,842 alleles
Filtering AF
0.277%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.265%
Overall
0.0156%
250/1,597,812 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.31% | 323 |
| Remaining individualsnot grpmax-eligible | 0.0177% | 5,634 |
| Admixed American | 0.00699% | 14,307 |
| South Asian | 0.00114% | 87,494 |
| European (non-Finnish) | 0.00017% | 586,744 |
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
- DAPK2
- Protein
- p.Arg366=
- Coding
- c.1098G>A
- MANE Select
- NM_014326
- dbSNP
- rs113007196
- Type
- single nucleotide variant
- Location
- chr15:63908535 (GRCh38)
- Gene constraint
- LOEUF 1.055 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.41 · 11 PDB
- Residue 366
- the 'disordered' region; an α-helix
Similar variants
- DAPK2 c.632+8G>T Benign/Likely benign ★★ same type
- DAPK2 p.Arg60= Likely benign ★★ same type
- DAPK2 p.Arg60Gln Likely benign ★★ ⚠ same type
- DAPK2 p.Arg68Gln Benign/Likely benign ★★ ⚠ same type
- DAPK2 p.Thr270= Benign ★★ same type
- DAPK2 p.Ala126Val Uncertain significance ★ ⚠ same type
- DAPK2 p.Ala175Pro Uncertain significance ★ ⚠ same type
- DAPK2 p.Ala175Val 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/dapk2-p-arg366 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown