DARS2 p.Leu451fs
c.1352dup · rs1169437542 · VCV1075158
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 14 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.9 | GERP 1.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- DARS2
- Protein
- p.Leu451fs
- Coding
- c.1352dup
- MANE Select
- NM_018122
- dbSNP
- rs1169437542
- Type
- Duplication
- Location
- chr1:173853353 (GRCh38)
- Gene constraint
- LOEUF 0.923 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.91 · 1 PDB
Similar variants
- DARS2 c.228-10dup Benign/Likely benign ★★ same type
- DARS2 p.Arg190fs Pathogenic ★ same type
- DARS2 p.Cys54fs Pathogenic ★ same type
- DARS2 p.Gly338fs Pathogenic ★ same type
- DARS2 p.Ser477fs Pathogenic ★ same type
- DARS2 c.1128+3_1128+6dup Uncertain significance ★ same type
- DARS2 c.1192-29dup Benign ★ same type
- DARS2 c.127+88dup Likely benign ★ 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/dars2-p-leu451fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown