STIL p.Arg378=
c.1134G>A · rs1240263164 · VCV1477294
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00134%, afr)
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 -0.048 | GERP -1.5, phastCons 0.67 |
| Overall | ||
| CADD | 10.04 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00134%
African / African-American · 1/74,482 alleles
Overall
6.27e-05%
1/1,594,072 alleles · very rare
exomes 0/1,442,046 · genomes 1/152,026 · joint denominator
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
- STIL
- Protein
- p.Arg378=
- Coding
- c.1134G>A
- MANE Select
- NM_001048166
- dbSNP
- rs1240263164
- Type
- single nucleotide variant
- Location
- chr1:47282459 (GRCh38)
- Gene constraint
- LOEUF 0.575 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 54.29 · 5 PDB
- Residue 378
- the 'interaction with rbm14' region; the 'interaction with cpap' region; the 'disordered' region
Similar variants
- STIL c.*203C>T Uncertain significance ★★ same type
- STIL c.*599A>G Uncertain significance ★★ same type
- STIL p.Ala213Val Uncertain significance ★★ ⚠ same type
- STIL p.Ala543Val Uncertain significance ★★ ⚠ same type
- STIL p.Arg1004Gly Uncertain significance ★★ ⚠ same type
- STIL p.Arg67Cys Uncertain significance ★★ ⚠ same type
- STIL p.Arg742His Uncertain significance ★★ ⚠ same type
- STIL p.Arg9Gln 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/stil-p-arg378 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown