INF2 p.Asp228Ala
c.683A>C · VCV3749272
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.3433 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
2
focal segmental glomerulosclerosis 5
Computational evidence
| Protein change | ||
| AlphaMissense | 0.3433 | ambiguous |
|---|---|---|
| REVEL | 0.62 | indeterminate |
| SaProt | LLR -9.46 | tolerated |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 5.9, phastCons 1 |
| Regional constraint | o/e 0.72 | unconstrained · MANE · 5,444 bp · p 1.4e-07 · regional, not allelic |
| Overall | ||
| CADD | 23.4 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
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.Asp228Ala
- Coding
- c.683A>C
- MANE Select
- NM_022489
- Type
- single nucleotide variant
- Location
- chr14:104703931 (GRCh38)
- Gene constraint
- LOEUF 0.526 · pLI 0.33 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 67.34 · 10 PDB
- Residue 228
- the gbd/fh3 domain
Similar variants
- INF2 p.Asp228= Likely benign ★ same residue
- INF2 p.Arg177Cys Pathogenic/Likely pathogenic ★★ same condition
- INF2 p.Arg214Cys Pathogenic/Likely pathogenic ★★ same condition
- INF2 p.Arg214His Pathogenic/Likely pathogenic ★★ same condition
- INF2 p.Arg218Gln Pathogenic/Likely pathogenic ★★ same condition
- INF2 p.Arg218Trp Pathogenic/Likely pathogenic ★★ same condition
- INF2 p.Arg91Gly Pathogenic/Likely pathogenic ★★ same condition
- INF2 p.Asn202Asp 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-asp228ala (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown