C8B p.Asp422Asn
c.1263_1264delinsAA · VCV3648229
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 5.4 | GERP 2.1, phastCons 1 |
| Regional constraint | o/e 1.09 | unconstrained · MANE · 37 kb · p 0.016 · regional, not allelic |
Variant & gene context
- Gene
- C8B
- Protein
- p.Asp422Asn
- Coding
- c.1263_1264delinsAA
- MANE Select
- NM_000066
- Type
- Indel
- Location
- chr1:56940983 (GRCh38)
- Gene constraint
- LOEUF 1.18 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.99 · 8 PDB
- Residue 422
- a UniProt-annotated variant site (in c8d2); a β-strand; the macpf domain
Similar variants
- C8B p.Asp422Ala Uncertain significance ★★ ⚠ same residue
- C8B p.Asp422= Likely benign ★ same residue
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/c8b-p-asp422asn (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown