CFP p.Trp388fs
c.1161del · rs2147936446 · VCV1307122
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 8 of 9 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.7, phastCons 1 |
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
- CFP
- Protein
- p.Trp388fs
- Coding
- c.1161del
- MANE Select
- NM_001145252
- dbSNP
- rs2147936446
- Type
- Deletion
- Location
- chrX:47626141 (GRCh38)
- Structure
- AlphaFold pLDDT 83.75 · 14 PDB
- Residue 388
- an α-helix; the tsp type-1 6 domain
Similar variants
- CFP p.Trp321del Uncertain significance ★ same type
- CFP c.1132+15_1132+16del Likely benign ★ same type
- CFP c.1245-11del Likely benign ★ same type
- CFP c.574+18del 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/cfp-p-trp388fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown