DOLK p.Phe73=
c.219C>T · rs761385789 · VCV1787549
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00223%, eas)
Conditions
1
Cardiovascular phenotype
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 5.8 | GERP -0.48, phastCons 1 |
| Overall | ||
| CADD | 12.23 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00223%
East Asian · 1/44,862 alleles
Overall
0.000205%
3/1,461,724 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00223% | 44,862 |
| Admixed American | 0.00167% | 60,010 |
| European (non-Finnish) | 8.47e-05% | 1,180,027 |
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
- DOLK
- Protein
- p.Phe73=
- Coding
- c.219C>T
- MANE Select
- NM_014908
- dbSNP
- rs761385789
- Type
- single nucleotide variant
- Location
- chr9:128947085 (GRCh38)
- Gene constraint
- LOEUF 0.858 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.37
Similar variants
- DOLK p.Phe73Leu Uncertain significance ★★ ⚠ same residue
- DOLK p.Met1Thr Pathogenic/Likely pathogenic ★★ same condition
- DOLK p.Ala194Val Uncertain significance ★★ ⚠ same condition
- DOLK p.Ala25Thr Uncertain significance ★★ ⚠ same condition
- DOLK p.Ala363Thr Uncertain significance ★★ ⚠ same condition
- DOLK p.Ala435Pro Uncertain significance ★★ ⚠ same condition
- DOLK p.Ala482Val Uncertain significance ★★ ⚠ same condition
- DOLK p.Ala504Thr 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/dolk-p-phe73 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown