ADNP p.Asp55Phe
c.163_164delinsTT · VCV4539896
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 6.2 | GERP 1.9, phastCons 1 |
| Regional constraint | o/e 0.59 | unconstrained · MANE · 9,522 bp · p 7.2e-05 · regional, not allelic |
Variant & gene context
- Gene
- ADNP
- Protein
- p.Asp55Phe
- Coding
- c.163_164delinsTT
- MANE Select
- NM_001282531
- Type
- Indel
- Location
- chr20:50902054 (GRCh38)
- Gene constraint
- LOEUF 0.106 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 57.07
Similar variants
- ADNP p.Leu369fs Pathogenic ★ same type
- ADNP p.Leu732fs Likely pathogenic ★ same type
- ADNP p.Gln1061Arg Uncertain significance ★ same type
- ADNP p.Cys811Asn Likely benign ★ 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/adnp-p-asp55phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown