AFG2B p.Val112=
c.336G>A · VCV4084729
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0104%, amr)
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 3.3 | GERP 0.66, phastCons 1 |
| Overall | ||
| CADD | 12.08 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0104%
Admixed American · 6/57,580 alleles
Filtering AF
0.00453%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00305%
Overall
0.00114%
18/1,582,524 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0104% | 9,597 |
| European (non-Finnish) | 0.00102% | 97,591 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- AFG2B
- Protein
- p.Val112=
- Coding
- c.336G>A
- MANE Select
- NM_024063
- Type
- single nucleotide variant
- Location
- chr15:45402765 (GRCh38)
- Structure
- AlphaFold pLDDT 77.37 · 2 PDB
- Residue 112
- the 'required for interaction with afg2a and cinp' region
Similar variants
- AFG2B p.Ile466Met Pathogenic/Likely pathogenic ★★ ⚠ same type
- AFG2B p.Thr400Ile Pathogenic/Likely pathogenic ★★ same type
- AFG2B p.Arg288Pro Uncertain significance ★★ ⚠ same type
- AFG2B p.Arg28Cys Uncertain significance ★★ ⚠ same type
- AFG2B p.Phe71Leu Uncertain significance ★★ ⚠ same type
- AFG2B p.Pro558Arg Uncertain significance ★★ ⚠ same type
- AFG2B p.Ser333Ile Uncertain significance ★★ ⚠ same type
- AFG2B p.Tyr738Cys 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/afg2b-p-val112 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown