ARX p.Ala188=
c.564G>C · rs2048711292 · VCV1254027
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 942,584)
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 -0.39 | GERP -2.6, phastCons 0.018 |
| Overall | ||
| CADD | 11.01 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 942,584). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- ARX
- Protein
- p.Ala188=
- Coding
- c.564G>C
- MANE Select
- NM_139058
- dbSNP
- rs2048711292
- Type
- single nucleotide variant
- Location
- chrX:25013431 (GRCh38)
- Structure
- AlphaFold pLDDT 56.51
- Residue 188
- the 'disordered' region
Similar variants
- ARX p.Ala188Gly Uncertain significance ★ ⚠ same residue
- ARX p.Ala188Ter Pathogenic ★ same residue
- ARX p.Arg330His Likely pathogenic ★★ same type
- ARX p.Arg332Cys Pathogenic/Likely pathogenic ★★ same type
- ARX p.Arg332Gly Pathogenic/Likely pathogenic ★★ same type
- ARX p.Arg332His Pathogenic ★★ same type
- ARX p.Arg371Gln Likely pathogenic ★★ same type
- ARX p.Arg371Ter 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/arx-p-ala188 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown