AUTS2 p.Pro430=
c.1290G>A · rs1457037255 · VCV2726264
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0103%, 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 -13 | GERP -4 |
| Overall | ||
| CADD | 0.364 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0103%
European (non-Finnish) · 14/136,362 alleles
Filtering AF
0.00615%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00495%
Overall
0.00676%
16/236,806 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0103% | 9,740 |
| Remaining individualsnot grpmax-eligible | 0.00955% | 10,466 |
| Admixed American | 0.00812% | 12,320 |
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
- AUTS2
- Protein
- p.Pro430=
- Coding
- c.1290G>A
- MANE Select
- NM_015570
- dbSNP
- rs1457037255
- Type
- single nucleotide variant
- Location
- chr7:70764827 (GRCh38)
- Gene constraint
- LOEUF 0.232 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 41.89
- Residue 430
- the 'important for regulation of lamellipodia formation' region; the 'disordered' region
Similar variants
- AUTS2 p.Pro430Leu Likely benign ★ ⚠ same residue
- AUTS2 c.2005-1G>C Likely pathogenic ★★ same type
- AUTS2 c.742+1G>A Pathogenic ★★ same type
- AUTS2 p.Arg126Ter Pathogenic/Likely pathogenic ★★ same type
- AUTS2 p.Arg152Ter Pathogenic/Likely pathogenic ★★ same type
- AUTS2 p.Arg316Ter Pathogenic/Likely pathogenic ★★ same type
- AUTS2 p.Arg495Ter Pathogenic ★★ same type
- AUTS2 p.Arg798Ter Pathogenic ★★ 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/auts2-p-pro430 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown