AKT3 p.Arg367=
c.1101A>C · rs2148466016 · VCV1531061
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
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 0.76 | GERP -3.8, phastCons 1 |
| Overall | ||
| CADD | 9.701 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- AKT3
- Protein
- p.Arg367=
- Coding
- c.1101A>C
- MANE Select
- NM_005465
- dbSNP
- rs2148466016
- Type
- single nucleotide variant
- Location
- chr1:243552791 (GRCh38)
- Gene constraint
- LOEUF 0.482 · pLI 0.99 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 82.42 · 2 PDB
- Residue 367
- the protein kinase domain
Similar variants
- AKT3 p.Glu17Lys Pathogenic ★★★ same condition
- AKT3 p.Glu361Gly Likely benign ★★★ ⚠ same condition
- AKT3 p.Lys168= Likely benign ★★★ same condition
- AKT3 p.Arg465Trp Pathogenic/Likely pathogenic ★★ same condition
- AKT3 p.Asp322Asn Pathogenic/Likely pathogenic ★★ ⚠ same condition
- AKT3 p.Pro424Leu Uncertain significance ★★ ⚠ same condition
- AKT3 p.Tyr251Cys Uncertain significance ★★ ⚠ same condition
- AKT3 p.Tyr414Cys Uncertain significance ★★ ⚠ same condition
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-arg367 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown