INF2 p.Leu709=
c.2127G>A · rs2541931409 · VCV2630941
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
INF2-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.4 | GERP 6.9, phastCons 1 |
| Overall | ||
| CADD | 11.61 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- INF2
- Protein
- p.Leu709=
- Coding
- c.2127G>A
- MANE Select
- NM_022489
- dbSNP
- rs2541931409
- Type
- single nucleotide variant
- Location
- chr14:104709694 (GRCh38)
- Gene constraint
- LOEUF 0.526 · pLI 0.33 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 67.34 · 10 PDB
- Residue 709
- the fh2 domain; an α-helix
Disease context
INF2-related disorder
Similar variants
- INF2 p.Arg214His Pathogenic/Likely pathogenic ★★ same condition
- INF2 p.Arg218Gln Pathogenic/Likely pathogenic ★★ same condition
- INF2 p.Cys151Arg Pathogenic/Likely pathogenic ★★ same condition
- INF2 p.Glu184Lys Pathogenic ★★ same condition
- INF2 p.Leu77Pro Pathogenic/Likely pathogenic ★★ same condition
- INF2 p.Leu78Pro Likely pathogenic ★★ same condition
- INF2 p.Gln903His Uncertain significance ★★ ⚠ same condition
- INF2 p.Cys151Tyr Likely 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/inf2-p-leu709 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown