PLVAP p.Ser394=
c.1182G>A · rs148412720 · VCV2112514
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.078%, eas)
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 -15 | GERP -2.2 |
| Overall | ||
| CADD | 0.032 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.078%
East Asian · 35/44,882 alleles
Filtering AF
0.0576%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0506%
Overall
0.00298%
48/1,613,300 alleles · ultra-rare
exomes 44/1,461,186 · genomes 4/152,114 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.078% | 1,282 |
| Middle Eastern | 0.0165% | 6,056 |
| African / African-American | 0.00667% | 14,992 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,243 |
| Finnishnot grpmax-eligible | 0.00156% | 63,976 |
| South Asian | 0.0011% | 91,062 |
| European (non-Finnish) | 0.000254% | 393,125 |
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
- PLVAP
- Protein
- p.Ser394=
- Coding
- c.1182G>A
- MANE Select
- NM_031310
- dbSNP
- rs148412720
- Type
- single nucleotide variant
- Location
- chr19:17360830 (GRCh38)
- Gene constraint
- LOEUF 1.015 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.39
- Residue 394
- a UniProt-annotated variant site (in diar10); a UniProt-annotated variant site (in diar10; the protein is not expressed in the patient biopsy tissues); the 'disordered' region
Similar variants
- PLVAP p.Arg358Ter Pathogenic ★★ same type
- PLVAP p.Ala292Val Uncertain significance ★★ ⚠ same type
- PLVAP p.Ala385Thr Uncertain significance ★★ ⚠ same type
- PLVAP p.Ala94Thr Uncertain significance ★★ ⚠ same type
- PLVAP p.Arg13Trp Uncertain significance ★★ ⚠ same type
- PLVAP p.Arg211Cys Uncertain significance ★★ ⚠ same type
- PLVAP p.Arg238His Uncertain significance ★★ ⚠ same type
- PLVAP p.Arg269Cys Uncertain significance ★★ ⚠ 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/plvap-p-ser394 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown