DUS1L p.Pro340=
c.1020G>A · VCV3505770
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00834%, amr)
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 -3.1 | GERP -3.7 |
| Overall | ||
| CADD | 5.909 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00834%
Admixed American · 5/59,940 alleles
Filtering AF
0.00324%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0026%
Overall
0.00341%
55/1,612,398 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00834% | 11,988 |
| Remaining individualsnot grpmax-eligible | 0.00641% | 15,603 |
| European (non-Finnish) | 0.00381% | 26,217 |
| South Asian | 0.0011% | 90,968 |
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
- DUS1L
- Protein
- p.Pro340=
- Coding
- c.1020G>A
- MANE Select
- NM_022156
- Type
- single nucleotide variant
- Location
- chr17:82060703 (GRCh38)
- Gene constraint
- LOEUF 1.103 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.95
- Residue 340
- the 'disordered' region
Similar variants
- DUS1L p.Pro340Leu Uncertain significance ★ ⚠ same residue
- DUS1L p.Ala120Thr Uncertain significance ★ ⚠ same type
- DUS1L p.Ala120Val Uncertain significance ★ ⚠ same type
- DUS1L p.Ala189Val Uncertain significance ★ ⚠ same type
- DUS1L p.Ala207Asp Uncertain significance ★ ⚠ same type
- DUS1L p.Ala232Thr Uncertain significance ★ ⚠ same type
- DUS1L p.Ala240Thr Uncertain significance ★ ⚠ same type
- DUS1L p.Ala272Thr 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/dus1l-p-pro340 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown