CHM p.Arg446fs
c.1336del · rs1926253608 · VCV966361
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 10 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -2.3 | GERP -4 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. 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
- CHM
- Protein
- p.Arg446fs
- Coding
- c.1336del
- MANE Select
- NM_000390
- dbSNP
- rs1926253608
- Type
- Deletion
- Location
- chrX:85901097 (GRCh38)
- Structure
- AlphaFold pLDDT 81.05
Similar variants
- CHM p.Arg446Cys Likely benign ★ same residue
- CHM p.Arg446His Benign ★ same residue
- CHM p.Ala455fs Pathogenic ★★ same type
- CHM p.Asn538fs Pathogenic/Likely pathogenic ★★ same type
- CHM p.Asp10fs Pathogenic ★★ same type
- CHM p.Glu177fs Pathogenic ★★ same type
- CHM p.Glu256fs Pathogenic ★★ same type
- CHM p.Glu322_Tyr323insTer 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/chm-p-arg446fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown