SYNCRIP p.Gln545del
c.1627CAA[2] · VCV4893327
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 1.1, phastCons 1 |
Variant & gene context
- Gene
- SYNCRIP
- Protein
- p.Gln545del
- Coding
- c.1627CAA[2]
- MANE Select
- NM_006372
- Type
- Microsatellite
- Location
- chr6:85614993 (GRCh38)
- Gene constraint
- LOEUF 0.249 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 70.83 · 4 PDB
- Residue 545
- the 'interaction with apobec1' region; the '8 x 3 aa repeats of r-g-g' region; the 'disordered' region; the 'interaction with smn' region
Similar variants
- SYNCRIP p.Gly287fs Pathogenic/Likely pathogenic ★★ same type
- SYNCRIP p.Ile234fs Pathogenic ★ 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/syncrip-p-gln545del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown