AKAP4 p.Asp36=
c.108T>C · rs145092176 · VCV2660541
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0818%, 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 0.68 | GERP -3.4, phastCons 0.98 |
| Overall | ||
| CADD | 2.958 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0818%
European (non-Finnish) · 731/893,420 alleles
Filtering AF
0.0769%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0749%
Overall
0.0645%
778/1,206,767 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0818% | 1,222 |
| Remaining individualsnot grpmax-eligible | 0.0631% | 1,584 |
| Finnishnot grpmax-eligible | 0.0195% | 5,141 |
| African / African-American | 0.0123% | 8,112 |
| Admixed American | 0.00219% | 45,594 |
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
- AKAP4
- Protein
- p.Asp36=
- Coding
- c.108T>C
- MANE Select
- NM_003886
- dbSNP
- rs145092176
- Type
- single nucleotide variant
- Location
- chrX:50198672 (GRCh38)
- Structure
- AlphaFold pLDDT 53.52
Similar variants
- AKAP4 p.Arg429His Uncertain significance ★★ ⚠ same type
- AKAP4 p.Ala150Gly Uncertain significance ★ ⚠ same type
- AKAP4 p.Ala449Val Uncertain significance ★ ⚠ same type
- AKAP4 p.Ala593Val Uncertain significance ★ ⚠ same type
- AKAP4 p.Ala719Glu Uncertain significance ★ ⚠ same type
- AKAP4 p.Ala731Pro Uncertain significance ★ ⚠ same type
- AKAP4 p.Ala809Val Uncertain significance ★ ⚠ same type
- AKAP4 p.Arg294Ser 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/akap4-p-asp36 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown