DOLK p.Val444=
c.1332C>T · rs1053317693 · VCV2161029
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00133%, afr)
Conditions
2
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 2.4 | GERP -0.81, phastCons 1 |
| Overall | ||
| CADD | 5.547 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00133%
African / African-American · 1/74,914 alleles
Overall
0.00131%
2/152,156 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00133% | 74,914 |
| European (non-Finnish) | 8.47e-05% | 1,180,043 |
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.Val444=
- Coding
- c.1332C>T
- MANE Select
- NM_014908
- dbSNP
- rs1053317693
- Type
- single nucleotide variant
- Location
- chr9:128945972 (GRCh38)
- Gene constraint
- LOEUF 0.858 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.37
- Residue 444
- a UniProt-annotated variant site (in cdg1m)
Similar variants
- DOLK p.Val444Ile Uncertain significance ★ ⚠ same residue
- DOLK p.His408Asp Pathogenic/Likely pathogenic ★★ same condition
- DOLK p.Met1Ile Pathogenic/Likely pathogenic ★★ same condition
- DOLK p.Met1Thr Pathogenic/Likely pathogenic ★★ same condition
- DOLK c.-194G>T Uncertain significance ★★ same condition
- DOLK c.-22G>A Uncertain significance ★★ same condition
- DOLK c.-269G>T Uncertain significance ★★ same condition
- DOLK p.Ala115Val 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-val444 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown