NARS1 p.Pro384=
c.1152C>A · rs141840292 · VCV2648749
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -0.41 | GERP -2.2, phastCons 0.003 |
| Overall | ||
| CADD | 5.031 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- NARS1
- Protein
- p.Pro384=
- Coding
- c.1152C>A
- MANE Select
- NM_004539
- dbSNP
- rs141840292
- Type
- single nucleotide variant
- Location
- chr18:57605956 (GRCh38)
- Gene constraint
- LOEUF 0.919 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.96 · 6 PDB
- Residue 384
- a UniProt-annotated variant site (in nedmilg); an α-helix
Similar variants
- NARS1 p.Pro384Leu Uncertain significance ★★ ⚠ same residue
- NARS1 p.Arg439Ter Likely pathogenic ★★ same type
- NARS1 p.Arg534Ter Pathogenic/Likely pathogenic ★★ same type
- NARS1 p.Arg545Cys Pathogenic/Likely pathogenic ★★ same type
- NARS1 c.342+4A>G Uncertain significance ★★ same type
- NARS1 p.Ala323Thr Uncertain significance ★★ ⚠ same type
- NARS1 p.Arg322Trp Uncertain significance ★★ ⚠ same type
- NARS1 p.Arg390Gln 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/nars1-p-pro384 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown