ALX4 p.Ser144=
c.432C>T · rs200895706 · VCV746992
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00895%, sas)
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 1.6 | GERP -2.2, phastCons 1 |
| Overall | ||
| CADD | 11.58 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00895%
South Asian · 8/89,358 alleles
Filtering AF
0.00444%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00317%
Overall
0.00138%
22/1,590,588 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00895% | 11,170 |
| African / African-American | 0.00135% | 74,154 |
| European (non-Finnish) | 0.00111% | 90,439 |
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
- ALX4
- Protein
- p.Ser144=
- Coding
- c.432C>T
- MANE Select
- NM_021926
- dbSNP
- rs200895706
- Type
- single nucleotide variant
- Location
- chr11:44309631 (GRCh38)
- Gene constraint
- LOEUF 0.902 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 59.00 · 4 PDB
- Residue 144
- the 'disordered' region
Similar variants
- ALX4 p.Arg265Ter Pathogenic ★★ same type
- ALX4 c.*2991G>A Uncertain significance ★★ same type
- ALX4 p.Arg193Gln Uncertain significance ★★ ⚠ same type
- ALX4 p.Arg257His Uncertain significance ★★ ⚠ same type
- ALX4 p.Arg274His Uncertain significance ★★ ⚠ same type
- ALX4 p.Arg388His Uncertain significance ★★ ⚠ same type
- ALX4 p.Asp176Gly Uncertain significance ★★ ⚠ same type
- ALX4 p.Asp206Asn Uncertain significance ★★ ⚠ 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/alx4-p-ser144 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown