CCM2 p.Glu191fs
c.569dup · rs2128749913 · VCV1693392
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 5 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.5 | GERP 1.2, 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
- CCM2
- Protein
- p.Glu191fs
- Coding
- c.569dup
- MANE Select
- NM_031443
- dbSNP
- rs2128749913
- Type
- Duplication
- Location
- chr7:45068538 (GRCh38)
- Gene constraint
- LOEUF 0.753 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.48 · 8 PDB
- Residue 191
- the pid domain
Similar variants
- CCM2 p.Glu191Lys Uncertain significance ★ ⚠ same residue
- CCM2 p.Arg412fs Pathogenic/Likely pathogenic ★★ same type
- CCM2 p.Glu359delinsProTer Pathogenic ★ same type
- CCM2 p.Glu66fs Pathogenic ★ same type
- CCM2 p.His104fs Pathogenic ★ same type
- CCM2 p.Leu58fs Pathogenic ★ same type
- CCM2 p.Leu59fs Pathogenic ★ same type
- CCM2 p.Pro77fs 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/ccm2-p-glu191fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown