CAV3 p.Phe97del
c.290_292del · rs199476335 · VCV8286
Uncertain significance
Multiple submitters
Classification
Uncertain significance
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
2
caveolinopathy
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 7.6 | GERP 2.9, phastCons 1 |
Population frequency
dbSNP / gnomAD
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
- CAV3
- Protein
- p.Phe97del
- Coding
- c.290_292del
- MANE Select
- NM_033337
- dbSNP
- rs199476335
- Type
- Deletion
- Location
- chr3:8745699 (GRCh38)
- Gene constraint
- LOEUF 1.064 · pLI 0.04 (gnomAD)
- Structure
- AlphaFold pLDDT 88.54
- Residue 97
- a UniProt-annotated variant site (in lqt9; increase in late sodium current); a UniProt-annotated variant site (in hypck); the 'required for interaction with dag1' region
Similar variants
- CAV3 p.Phe97Val Uncertain significance ★★ ⚠ same residue
- CAV3 p.Thr64_Thr66del Pathogenic same condition
- CAV3 c.114+2T>C Pathogenic ★★ same condition
- CAV3 p.Ala46Thr Pathogenic/Likely pathogenic ★★ ⚠ same condition
- CAV3 p.Arg27Gln Pathogenic ★★ same condition
- CAV3 c.*134G>A Uncertain significance ★★ same condition
- CAV3 c.*592G>A Uncertain significance ★★ same condition
- CAV3 c.*658T>A Uncertain significance ★★ same condition
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/cav3-p-phe97del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown