FREM2 p.Asp750Phe
c.2248_2249delinsTT · VCV3907668
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Fraser syndrome 2
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 2.6, phastCons 1 |
| Regional constraint | o/e 1.05 | unconstrained · MANE · 169 kb · p 0.0054 · regional, not allelic |
Variant & gene context
- Gene
- FREM2
- Protein
- p.Asp750Phe
- Coding
- c.2248_2249delinsTT
- MANE Select
- NM_207361
- Type
- Indel
- Location
- chr13:38689592 (GRCh38)
- Gene constraint
- LOEUF 0.588 · pLI <0.01 (gnomAD)
- Residue 750
- a UniProt-annotated variant site (in cryptop)
Similar variants
- FREM2 p.Asp750Glu Uncertain significance ★★ same residue
- FREM2 p.Asp750= Benign ★★ same residue
- FREM2 p.Gly2063fs Pathogenic ★ same condition
- FREM2 p.Ala1996fs Pathogenic/Likely pathogenic ★★ same condition
- FREM2 p.Arg1355Ter Pathogenic/Likely pathogenic ★★ same condition
- FREM2 p.Arg638Ter Likely pathogenic ★★ same condition
- FREM2 p.Arg736Ter Pathogenic ★★ same condition
- FREM2 p.Arg809Ter 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/frem2-p-asp750phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown