SIK1 p.Ser367=
c.1101G>A · rs751045541 · VCV1082892
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 96,690)
Conditions
2
Inborn genetic diseases
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 -20 | GERP -3.6 |
| Overall | ||
| CADD | 0.323 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 96,690). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- SIK1
- Protein
- p.Ser367=
- Coding
- c.1101G>A
- MANE Select
- NM_173354
- dbSNP
- rs751045541
- Type
- single nucleotide variant
- Location
- chr21:43419877 (GRCh38)
- Structure
- AlphaFold pLDDT 61.31
- Residue 367
- the 'disordered' region
Similar variants
- SIK1 p.Ser367Leu Likely benign ★★ same residue
- SIK1 c.273+4A>T Uncertain significance ★★ same condition
- SIK1 p.Ala475Gly Uncertain significance ★★ ⚠ same condition
- SIK1 p.Ala486Thr Uncertain significance ★★ ⚠ same condition
- SIK1 p.Ala513Gly Uncertain significance ★★ ⚠ same condition
- SIK1 p.Ala518Gly Uncertain significance ★★ ⚠ same condition
- SIK1 p.Ala680Thr Uncertain significance ★★ ⚠ same condition
- SIK1 p.Arg233Lys 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/sik1-p-ser367 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown