AVIL p.Leu764=
c.2292G>A · rs781170350 · VCV3049077
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00439%, sas)
Conditions
1
AVIL-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 -2.1 | GERP -4.7 |
| Overall | ||
| CADD | 1.695 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00439%
South Asian · 4/91,084 alleles
Filtering AF
0.00143%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000891%
Overall
0.000342%
5/1,461,888 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00439% | 22,771 |
| East Asian | 0.00223% | 44,882 |
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.Leu764=
- Coding
- c.2292G>A
- MANE Select
- NM_006576
- dbSNP
- rs781170350
- Type
- single nucleotide variant
- Location
- chr12:57799849 (GRCh38)
- Gene constraint
- LOEUF 0.81 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.82 · 1 PDB
- Residue 764
- the 'headpiece' region; the hp domain; the 'required for interaction with f-actin' region
Disease context
AVIL-related disorder
Similar variants
- AVIL p.Glu667Lys Uncertain significance ⚠ same condition
- AVIL c.1818-6T>C Likely benign same condition
- AVIL p.Gln413= Likely benign same condition
- AVIL p.Gly299Arg Likely benign same condition
- AVIL p.Gly434= Likely benign same condition
- AVIL p.Leu679= Likely benign same condition
- AVIL p.Leu747Phe Likely benign same condition
- AVIL p.Val29= Likely benign 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/avil-p-leu764 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown