SKI p.Val439Phe
c.1314_1315delinsGT · VCV3619306
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Shprintzen-Goldberg syndrome
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 -6.8 | GERP -3.2 |
| Regional constraint | o/e 1.10 | unconstrained · MANE · 77 kb · p 0.0098 · regional, not allelic |
Variant & gene context
- Gene
- SKI
- Protein
- p.Val439Phe
- Coding
- c.1314_1315delinsGT
- MANE Select
- NM_003036
- Type
- Indel
- Location
- chr1:2303942 (GRCh38)
- Gene constraint
- LOEUF 0.809 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 67.18 · 4 PDB
Similar variants
- SKI p.Val439= Likely benign ★★ same residue
- SKI p.Val439Ile Likely benign ★★ same residue
- SKI p.Ala66Pro Uncertain significance ★ same condition
- SKI p.Ala67Asn Uncertain significance ★ same condition
- SKI p.Val439Ala Uncertain significance ★ ⚠ same residue
- SKI p.Val64Ser Uncertain significance ★ same condition
- SKI p.Glu704_Leu705= Likely benign ★ same condition
- SKI p.Ser135_Leu136= Likely benign ★ 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/ski-p-val439phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown