AKT3 p.Lys58=
c.174A>G · rs1572133028 · VCV710840
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 1,510,516)
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 2.8 | GERP -0.27, phastCons 1 |
| Overall | ||
| CADD | 14.2 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,510,516). 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
- AKT3
- Protein
- p.Lys58=
- Coding
- c.174A>G
- MANE Select
- NM_005465
- dbSNP
- rs1572133028
- Type
- single nucleotide variant
- Location
- chr1:243664882 (GRCh38)
- Gene constraint
- LOEUF 0.482 · pLI 0.99 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 82.42 · 2 PDB
- Residue 58
- the ph domain
Similar variants
- AKT3 p.Glu17Lys Pathogenic ★★★ same type
- AKT3 p.Glu361Gly Likely benign ★★★ ⚠ same type
- AKT3 p.Lys168= Likely benign ★★★ same type
- AKT3 p.Arg465Trp Pathogenic/Likely pathogenic ★★ same type
- AKT3 p.Asn229Ile Pathogenic/Likely pathogenic ★★ same type
- AKT3 p.Asp322Asn Pathogenic/Likely pathogenic ★★ ⚠ same type
- AKT3 p.Ile128Met Uncertain significance ★★ ⚠ same type
- AKT3 p.Pro424Leu 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/akt3-p-lys58 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown