EVC p.Ala50Arg
c.148_149delinsAG · VCV4791362
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
2
Ellis-van Creveld syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.31 | GERP -1.8 |
| Regional constraint | o/e 1.12 | unconstrained · MANE · 100 kb · p 1.2e-05 · regional, not allelic |
Variant & gene context
- Gene
- EVC
- Protein
- p.Ala50Arg
- Coding
- c.148_149delinsAG
- MANE Select
- NM_153717
- Type
- Indel
- Location
- chr4:5711528 (GRCh38)
- Gene constraint
- LOEUF 1.134 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.49
Similar variants
- EVC p.Ala50= Likely benign ★ same residue
- EVC p.Glu420fs Pathogenic/Likely pathogenic ★★ same condition
- EVC c.2562-13_2562-12delinsCC Likely benign ★★ same condition
- EVC p.Arg935fs Likely pathogenic ★ same condition
- EVC p.Gln361fs Likely pathogenic ★ same condition
- EVC p.Gln878_Gln879delinsHisTer Pathogenic ★ same condition
- EVC p.His454fs Likely pathogenic ★ same condition
- EVC p.Lys301fs Pathogenic ★ 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-ala50arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown