ACVR1 p.Val144Phe
c.429_430delinsTT · VCV3652271
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 3.3 | GERP 0.74, phastCons 1 |
| Regional constraint | o/e 0.86 | unconstrained · MANE · 25 kb · p 0.034 · regional, not allelic |
Variant & gene context
- Gene
- ACVR1
- Protein
- p.Val144Phe
- Coding
- c.429_430delinsTT
- MANE Select
- NM_001111067
- Type
- Indel
- Location
- chr2:157778244 (GRCh38)
- Gene constraint
- LOEUF 0.835 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 83.70 · 85 PDB
Similar variants
- ACVR1 p.Val144Ala Uncertain significance ★★ ⚠ same residue
- ACVR1 p.Arg202Glu Uncertain significance ★ same type
- ACVR1 p.Glu230Gly 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/acvr1-p-val144phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown