SYNCRIP p.Lys284del
c.852_854del · VCV3323895
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Inborn genetic diseases
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 4 | GERP -1.8, phastCons 1 |
Variant & gene context
- Gene
- SYNCRIP
- Protein
- p.Lys284del
- Coding
- c.852_854del
- MANE Select
- NM_006372
- Type
- Deletion
- Location
- chr6:85622636 (GRCh38)
- Gene constraint
- LOEUF 0.249 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 70.83 · 4 PDB
- Residue 284
- the rrm 2 domain
Similar variants
- SYNCRIP p.Val273_Tyr276del Uncertain significance ★ same condition
- SYNCRIP p.Ala216Thr Uncertain significance ★★ same condition
- SYNCRIP p.Asn243Ser Uncertain significance ★★ ⚠ same condition
- SYNCRIP p.Pro440Leu Uncertain significance ★★ ⚠ same condition
- SYNCRIP p.Pro508Leu Uncertain significance ★★ ⚠ same condition
- SYNCRIP p.Ser116Gly Uncertain significance ★★ ⚠ same condition
- SYNCRIP p.Glu612Val Likely benign ★★ ⚠ same condition
- SYNCRIP p.Ala346Thr Uncertain significance ★ ⚠ same condition
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-lys284del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown