CAV3 p.Ile32Phe
c.94A>T · VCV4854277
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.5497 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
1/2 damaging
REVEL, SaProt · AlphaMissense no call
Conditions
1
CAV3-related disorder
Computational evidence
| Protein change | ||
| AlphaMissense | 0.5497 | ambiguous |
|---|---|---|
| REVEL | 0.826 | moderately pathogenic-leaning |
| SaProt | LLR -9.66 | tolerated |
| ⇒ REVEL calls this damaging; SaProt does not; AlphaMissense makes no call. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP -1.2, phastCons 1 |
| Regional constraint | o/e 0.83 | unconstrained · MANE · 12 kb · p 0.021 · regional, not allelic |
| Overall | ||
| CADD | 26.1 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CAV3
- Protein
- p.Ile32Phe
- Coding
- c.94A>T
- MANE Select
- NM_033337
- Type
- single nucleotide variant
- Location
- chr3:8733970 (GRCh38)
- Gene constraint
- LOEUF 1.064 · pLI 0.04 (gnomAD)
- Structure
- AlphaFold pLDDT 88.54
Disease context
CAV3-related disorder
Similar variants
- CAV3 p.Ile32Thr Uncertain significance ★ ⚠ same residue
- CAV3 p.Arg126His Uncertain significance ★★ ⚠ same condition
- CAV3 p.Ser61Arg Likely pathogenic ★ same condition
- CAV3 p.Arg27Pro Conflicting classifications of pathogenicity ★ ⚠ same condition
- CAV3 c.114+2T>C Pathogenic ★★ same type
- CAV3 p.Ala46Thr Pathogenic/Likely pathogenic ★★ same type
- CAV3 p.Arg27Gln Pathogenic ★★ same type
- CAV3 p.Trp71Ter Pathogenic/Likely 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/cav3-p-ile32phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown