CYBB p.Arg130fs
c.388del · rs886041193 · VCV279795
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 5 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 1.6, 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
- CYBB
- Protein
- p.Arg130fs
- Coding
- c.388del
- MANE Select
- NM_000397
- dbSNP
- rs886041193
- Type
- Deletion
- Location
- chrX:37793713 (GRCh38)
- Structure
- AlphaFold pLDDT 90.29 · 6 PDB
- Residue 130
- an α-helix; the ferric oxidoreductase domain
Similar variants
- CYBB p.Arg130Pro Pathogenic ★★ same residue
- CYBB p.Arg130Ter Pathogenic ★★ same residue
- CYBB p.Arg130= Likely benign ★★ same residue
- CYBB p.Glu347fs Pathogenic ★★ same type
- CYBB p.Glu540fs Likely pathogenic ★★ same type
- CYBB p.Ile241fs Pathogenic ★★ same type
- CYBB p.Val27fs Pathogenic ★★ same type
- CYBB p.Val321fs 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/cybb-p-arg130fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown