AMER1 p.Ile331fs
c.992_996del · VCV4713301
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (2 of 2) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- AMER1
- Protein
- p.Ile331fs
- Coding
- c.992_996del
- MANE Select
- NM_152424
- Type
- Deletion
- Location
- chrX:64192291 (GRCh38)
- Structure
- AlphaFold pLDDT 48.88 · 3 PDB
Similar variants
- AMER1 p.Arg497fs Pathogenic/Likely pathogenic ★★ same type
- AMER1 p.Gln232fs Pathogenic ★★ same type
- AMER1 p.Leu406fs Pathogenic ★★ same type
- AMER1 p.Lys292fs Pathogenic ★★ same type
- AMER1 p.Asp315fs Pathogenic ★ same type
- AMER1 p.Asp481fs Pathogenic ★ same type
- AMER1 p.Cys125fs Pathogenic ★ same type
- AMER1 p.Cys216fs Pathogenic ★ 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/amer1-p-ile331fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown