CAVIN1 p.Asp47fs
c.141_148del · rs2509876910 · VCV3063854
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 1 of 2 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 1.8, 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
- CAVIN1
- Protein
- p.Asp47fs
- Coding
- c.141_148del
- MANE Select
- NM_012232
- dbSNP
- rs2509876910
- Type
- Deletion
- Location
- chr17:42422950 (GRCh38)
- Gene constraint
- LOEUF 1.092 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 68.03 · 3 PDB
- Residue 47
- the 'required for homotrimerization and for interaction with cavin2 and cavin3' region
Similar variants
- CAVIN1 p.Glu354fs Likely pathogenic ★★ same type
- CAVIN1 p.Lys173fs Pathogenic/Likely pathogenic ★★ same type
- CAVIN1 p.Glu176fs Pathogenic same type
- CAVIN1 p.Lys45fs Pathogenic same type
- CAVIN1 p.Val54fs 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/cavin1-p-asp47fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown