DUSP14 p.Thr120=
c.360G>A · VCV4662519
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0011%, 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 -5.1 | GERP -4.5 |
| Overall | ||
| CADD | 2.66 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0011%
South Asian · 1/91,072 alleles
Filtering AF
0.000183%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00012%
Overall
0.000434%
7/1,612,972 alleles · very rare
exomes 5/1,460,650 · genomes 2/152,322 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0011% | 91,072 |
| European (non-Finnish) | 0.000509% | 196,510 |
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
- DUSP14
- Protein
- p.Thr120=
- Coding
- c.360G>A
- MANE Select
- NM_007026
- Type
- single nucleotide variant
- Location
- chr17:37512632 (GRCh38)
- Gene constraint
- LOEUF 0.766 · pLI 0.50 (gnomAD)
- Structure
- AlphaFold pLDDT 89.31 · 1 PDB
- Residue 120
- the tyrosine-protein phosphatase domain; an α-helix
Similar variants
- DUSP14 p.Arg117Gly Uncertain significance ★ ⚠ same type
- DUSP14 p.Arg163His Uncertain significance ★ ⚠ same type
- DUSP14 p.Arg190Gln Uncertain significance ★ ⚠ same type
- DUSP14 p.Arg45Gln Uncertain significance ★ ⚠ same type
- DUSP14 p.Arg4Ser Uncertain significance ★ ⚠ same type
- DUSP14 p.Asn44Ser Uncertain significance ★ ⚠ same type
- DUSP14 p.Asn67Ser Uncertain significance ★ ⚠ same type
- DUSP14 p.Asp183Asn 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/dusp14-p-thr120 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown