CAV1 p.Ser136=
c.408C>T · rs1211183781 · VCV1737710
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00203%, nfe)
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.26 | GERP -2.5, phastCons 0.99 |
| Overall | ||
| CADD | 7.19 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00203%
European (non-Finnish) · 24/1,179,878 alleles
Filtering AF
0.00138%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00116%
Overall
0.00149%
24/1,613,810 alleles · very rare
exomes 23/1,461,616 · genomes 1/152,194 · joint denominator
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
- CAV1
- Protein
- p.Ser136=
- Coding
- c.408C>T
- MANE Select
- NM_001753
- dbSNP
- rs1211183781
- Type
- single nucleotide variant
- Location
- chr7:116559158 (GRCh38)
- Gene constraint
- LOEUF 0.967 · pLI 0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.60 · 1 PDB
- Residue 136
- an α-helix; the 'interacts with spry1, spry2, spry3 and spry4' region
Similar variants
- CAV1 p.Ser136Asn Uncertain significance ★★ ⚠ same residue
- CAV1 p.Arg146His Uncertain significance ★★ ⚠ same condition
- CAV1 p.Phe68Val Uncertain significance ★★ ⚠ same condition
- CAV1 p.Asn169= Likely benign ★★ same condition
- CAV1 p.Asp43= Benign/Likely benign ★★ same condition
- CAV1 p.Asp61= Likely benign ★★ same condition
- CAV1 p.Gln175= Likely benign ★★ same condition
- CAV1 p.Gly116= Benign/Likely benign ★★ 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/cav1-p-ser136 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown