DOLK p.Ser250=
c.750A>G · rs1243690893 · VCV2625606
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00267%, afr)
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 -6.2 | GERP -3.4 |
| Overall | ||
| CADD | 1.655 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00267%
African / African-American · 2/74,890 alleles
Filtering AF
0.000443%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000166%
Overall
0.000124%
2/1,613,972 alleles · very rare
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.Ser250=
- Coding
- c.750A>G
- MANE Select
- NM_014908
- dbSNP
- rs1243690893
- Type
- single nucleotide variant
- Location
- chr9:128946554 (GRCh38)
- Gene constraint
- LOEUF 0.858 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.37
Similar variants
- 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
- DOLK p.Arg109Ser 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-ser250 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown