KAT8 p.Ser37Ile
c.109_110delinsAT · VCV4929578
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 4 | GERP 1.2, phastCons 1 |
| Regional constraint | o/e 1.17 | unconstrained · MANE · 139 bp · p 0.14 · regional, not allelic |
Variant & gene context
- Gene
- KAT8
- Protein
- p.Ser37Ile
- Coding
- c.109_110delinsAT
- MANE Select
- NM_032188
- Type
- Indel
- Location
- chr16:31117790 (GRCh38)
- Gene constraint
- LOEUF 0.852 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 83.01 · 44 PDB
- Residue 37
- a modified residue (phosphoserine); the 'disordered' region
Similar variants
- KAT8 p.Ser37Cys Uncertain significance ★ ⚠ same residue
- KAT8 p.Glu27_Asn28delinsGlyAsp Uncertain significance ★ same type
- KAT8 p.Lys351_Lys358delinsHisSerArg Uncertain significance ★ same type
- KAT8 p.Val55fs Uncertain significance ★ same type
- KAT8 p.Gly311Leu 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/kat8-p-ser37ile (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown