PXDN p.Val808=
c.2424C>G · VCV4951675
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 1.4 | GERP -3.7, phastCons 1 |
| Overall | ||
| CADD | 0.683 | PHRED · no single calibrated threshold — expert panels disagree |
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
- PXDN
- Protein
- p.Val808=
- Coding
- c.2424C>G
- MANE Select
- NM_012293
- Type
- single nucleotide variant
- Location
- chr2:1649356 (GRCh38)
- Gene constraint
- LOEUF 0.677 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 80.43
Similar variants
- PXDN p.Ala211Val Uncertain significance ★★ ⚠ same type
- PXDN p.Arg1242Cys Uncertain significance ★★ ⚠ same type
- PXDN p.Arg1376Cys Uncertain significance ★★ ⚠ same type
- PXDN p.Arg372Gln Uncertain significance ★★ ⚠ same type
- PXDN p.Arg597Trp Uncertain significance ★★ same type
- PXDN p.Arg84Gln Uncertain significance ★★ ⚠ same type
- PXDN p.Arg874Cys Uncertain significance ★★ ⚠ same type
- PXDN p.Asn655Ser 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/pxdn-p-val808 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown