CAV3 p.Ala134=
c.402G>A · rs559206877 · VCV180794
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 6 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0111%, eas)
Conditions
3
Cardiovascular phenotype
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -20 | GERP -5.9 |
| Overall | ||
| CADD | 1.031 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0111%
East Asian · 5/44,878 alleles
Filtering AF
0.00435%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00276%
Overall
0.00157%
23/1,461,510 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0111% | 8,976 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,252 |
| African / African-American | 0.00133% | 75,034 |
| European (non-Finnish) | 0.00119% | 84,289 |
| South Asian | 0.0011% | 91,082 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CAV3
- Protein
- p.Ala134=
- Coding
- c.402G>A
- MANE Select
- NM_033337
- dbSNP
- rs559206877
- Type
- single nucleotide variant
- Location
- chr3:8745813 (GRCh38)
- Gene constraint
- LOEUF 1.064 · pLI 0.04 (gnomAD)
- Structure
- AlphaFold pLDDT 88.54
Similar variants
- CAV3 p.Ala134Glu Uncertain significance ★★ ⚠ same residue
- CAV3 p.Ala134Pro Uncertain significance ★★ ⚠ same residue
- CAV3 p.Ala134Val Uncertain significance ★★ ⚠ same residue
- CAV3 c.114+2T>C Pathogenic ★★ same condition
- CAV3 p.Ala46Thr Pathogenic/Likely pathogenic ★★ same condition
- CAV3 p.Arg27Gln Pathogenic ★★ same condition
- CAV3 p.Trp71Ter Pathogenic/Likely pathogenic ★★ same condition
- CAV3 c.114+5G>C 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-ala134 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown