EVC p.Ser215fs
c.645_647delinsG · rs2474716865 · VCV2690598
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 21 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.3 | GERP 0.62, phastCons 0.76 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- EVC
- Protein
- p.Ser215fs
- Coding
- c.645_647delinsG
- MANE Select
- NM_153717
- dbSNP
- rs2474716865
- Type
- Indel
- Location
- chr4:5733378 (GRCh38)
- Gene constraint
- LOEUF 1.134 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.49
Similar variants
- EVC p.Glu420fs Pathogenic/Likely pathogenic ★★ same type
- EVC c.2562-13_2562-12delinsCC Likely benign ★★ same type
- EVC p.Arg935fs Likely pathogenic ★ same type
- EVC p.Gln361fs Likely pathogenic ★ same type
- EVC p.Gln878_Gln879delinsHisTer Pathogenic ★ same type
- EVC p.His454fs Likely pathogenic ★ same type
- EVC p.Lys301fs Pathogenic ★ same type
- EVC p.Ser263fs Likely pathogenic ★ 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/evc-p-ser215fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown