AVIL p.Val29=
c.87G>A · rs201733211 · VCV3052545
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.386%, eas)
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 -0.019 | GERP -4.7, phastCons 0.76 |
| Overall | ||
| CADD | 1.738 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.386%
East Asian · 173/44,816 alleles
Filtering AF
0.339%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.321%
Overall
0.0113%
182/1,613,098 alleles · rare
exomes 166/1,461,046 · genomes 16/152,052 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.386% | 259 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,623 |
| South Asian | 0.0033% | 30,288 |
| Admixed American | 0.00167% | 59,942 |
| European (non-Finnish) | 8.48e-05% | 1,179,792 |
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.Val29=
- Coding
- c.87G>A
- MANE Select
- NM_006576
- dbSNP
- rs201733211
- Type
- single nucleotide variant
- Location
- chr12:57814206 (GRCh38)
- Gene constraint
- LOEUF 0.81 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.82 · 1 PDB
- Residue 29
- the 'core' 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.Leu764= 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-val29 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown