AKAP8 p.Ser239=
c.717C>A · rs1450013190 · VCV747942
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.017%, mid)
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 0.26 | GERP -4.2, phastCons 0.93 |
| Overall | ||
| CADD | 3.243 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.017%
Middle Eastern · 1/5,868 alleles
Overall
7.06e-05%
1/1,415,694 alleles · ultra-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
- AKAP8
- Protein
- p.Ser239=
- Coding
- c.717C>A
- MANE Select
- NM_005858
- dbSNP
- rs1450013190
- Type
- single nucleotide variant
- Location
- chr19:15372995 (GRCh38)
- Gene constraint
- LOEUF 0.48 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 53.67
- Residue 239
- the 'disordered' region
Similar variants
- AKAP8 p.Ala40Thr Uncertain significance ★★ ⚠ same type
- AKAP8 c.1072+7A>C Benign ★★ same type
- AKAP8 p.Ala615= Benign ★★ same type
- AKAP8 p.Arg206His Benign ★★ same type
- AKAP8 p.Arg320Gln Likely benign ★★ ⚠ same type
- AKAP8 p.Asp687= Likely benign ★★ same type
- AKAP8 p.Glu226Lys Likely benign ★★ same type
- AKAP8 p.Gly167Glu 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/akap8-p-ser239 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown