AVIL p.Leu570=
c.1710G>C · rs1595160939 · VCV748523
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000169%, nfe)
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 0.77 | GERP -0.99, phastCons 1 |
| Overall | ||
| CADD | 8.233 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000169%
European (non-Finnish) · 2/1,180,034 alleles
Filtering AF
2.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000137%
2/1,461,870 alleles · very rare
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.Leu570=
- Coding
- c.1710G>C
- MANE Select
- NM_006576
- dbSNP
- rs1595160939
- Type
- single nucleotide variant
- Location
- chr12:57803631 (GRCh38)
- Gene constraint
- LOEUF 0.81 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.82 · 1 PDB
- Residue 570
- the 'core' 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-leu570 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown