DOLK p.Ala84=
c.252C>T · VCV4904876
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0351%, sas)
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 0.29 | GERP -1.8, phastCons 0.94 |
| Overall | ||
| CADD | 8.493 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0351%
South Asian · 32/91,090 alleles
Filtering AF
0.0255%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0222%
Overall
0.00211%
34/1,613,638 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0351% | 2,847 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,488 |
| European (non-Finnish) | 8.47e-05% | 1,180,034 |
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.Ala84=
- Coding
- c.252C>T
- MANE Select
- NM_014908
- Type
- single nucleotide variant
- Location
- chr9:128947052 (GRCh38)
- Gene constraint
- LOEUF 0.858 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.37
Similar variants
- DOLK p.Ala84Ser Uncertain significance ★★ ⚠ same residue
- DOLK p.His408Asp Pathogenic/Likely pathogenic ★★ same type
- DOLK p.Met1Ile Pathogenic/Likely pathogenic ★★ same type
- DOLK p.Met1Thr Pathogenic/Likely pathogenic ★★ same type
- DOLK c.-194G>T Uncertain significance ★★ same type
- DOLK c.-22G>A Uncertain significance ★★ same type
- DOLK c.-269G>T Uncertain significance ★★ same type
- DOLK p.Ala115Val 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/dolk-p-ala84 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown