ESPN p.Ala10Arg
c.28_29delinsCG · VCV4927232
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
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 4.5 | GERP -1.1, phastCons 1 |
| Regional constraint | o/e 0.88 | unconstrained · MANE · 21 kb · p 0.002 · regional, not allelic |
Variant & gene context
- Gene
- ESPN
- Protein
- p.Ala10Arg
- Coding
- c.28_29delinsCG
- MANE Select
- NM_031475
- Type
- Indel
- Location
- chr1:6424983 (GRCh38)
- Gene constraint
- LOEUF 1.307 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 68.76
Similar variants
- ESPN p.Ala10Pro Uncertain significance ★ ⚠ same residue
- ESPN p.Leu210Gly Uncertain significance ★★ same type
- ESPN p.Ala624_Arg631delinsCys Uncertain significance ★ same type
- ESPN p.Ala67_Arg68delinsValHis 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/espn-p-ala10arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown