EVC p.Ser206=
c.618T>C · VCV4618906
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 | all four deltas below 0.2 · T>G here scores Δ0.35 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -4.6 | GERP -3.6 |
| Overall | ||
| CADD | 0.169 | 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
- EVC
- Protein
- p.Ser206=
- Coding
- c.618T>C
- MANE Select
- NM_153717
- Type
- single nucleotide variant
- Location
- chr4:5733351 (GRCh38)
- Gene constraint
- LOEUF 1.134 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.49
- Residue 206
- a UniProt-annotated variant site (in evc)
Similar variants
- EVC p.Ser206Asn Pathogenic/Likely pathogenic ★★ ⚠ same residue
- EVC p.Ala20Pro Uncertain significance ★★ ⚠ same condition
- EVC p.Ala365Asp Uncertain significance ★★ ⚠ same condition
- EVC p.Ala365Thr Uncertain significance ★★ ⚠ same condition
- EVC p.Arg340Gln Uncertain significance ★★ ⚠ same condition
- EVC p.Arg438Trp Uncertain significance ★★ ⚠ same condition
- EVC p.Arg622Gln Uncertain significance ★★ ⚠ same condition
- EVC p.Arg647Trp 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/evc-p-ser206 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown