AVIL p.Asn767=
c.2301C>T · VCV4822270
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.075%, 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 0.96 | GERP -1.2, phastCons 0.84 |
| Overall | ||
| CADD | 5.038 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.075%
Admixed American · 45/60,014 alleles
Filtering AF
0.0575%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0514%
Overall
0.00297%
48/1,614,138 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.075% | 1,334 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00676% | 14,802 |
| European (non-Finnish) | 8.47e-05% | 1,180,011 |
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
- AVIL
- Protein
- p.Asn767=
- Coding
- c.2301C>T
- MANE Select
- NM_006576
- Type
- single nucleotide variant
- Location
- chr12:57799840 (GRCh38)
- Gene constraint
- LOEUF 0.81 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.82 · 1 PDB
- Residue 767
- the 'headpiece' region; the hp domain; the 'required for interaction with f-actin' region
Similar variants
- AVIL p.Arg199Ter Likely pathogenic ★★ same type
- AVIL p.Asn777Lys Uncertain significance ★★ ⚠ same type
- AVIL p.Gly577Ser Uncertain significance ★★ ⚠ same type
- AVIL p.Gly626Ser Uncertain significance ★★ ⚠ same type
- AVIL p.Ile250Thr Uncertain significance ★★ ⚠ same type
- AVIL c.1194+202C>T Benign ★★ same type
- AVIL c.2151+142A>G Benign ★★ same type
- AVIL c.67-155C>T Benign ★★ 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/avil-p-asn767 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown