SRCAP p.Glu3173Leu
c.9517_9518delinsTT · VCV4713815
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 12 | GERP 2.5, phastCons 1 |
| Regional constraint | o/e 1.06 | unconstrained · MANE · 2,598 bp · p 0.058 · regional, not allelic |
Variant & gene context
- Gene
- SRCAP
- Protein
- p.Glu3173Leu
- Coding
- c.9517_9518delinsTT
- MANE Select
- NM_006662
- Type
- Indel
- Location
- chr16:30739557 (GRCh38)
- Gene constraint
- LOEUF 0.223 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Residue 3173
- the 'disordered' region; a UniProt-annotated variant site (in dehmba); a UniProt-annotated variant site (in flhs)
Similar variants
- SRCAP p.Glu3173Ter Likely pathogenic ★ same residue
- SRCAP p.Glu3173Gly Uncertain significance ★ same residue
- SRCAP p.Ala1721Leu Uncertain significance ★★ same type
- SRCAP p.Pro2513delinsValTer Pathogenic ★ same type
- SRCAP p.Arg1854Pro Uncertain significance ★ same type
- SRCAP p.Arg389Leu Uncertain significance ★ same type
- SRCAP p.Pro2719Arg Uncertain significance ★ same type
- SRCAP p.Pro3162Leu 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/srcap-p-glu3173leu (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown