ACTG1 p.Ile165=
c.495C>A · VCV3342805
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 5.1 | GERP -0.45, phastCons 1 |
| Overall | ||
| CADD | 9.624 | 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
- ACTG1
- Protein
- p.Ile165=
- Coding
- c.495C>A
- MANE Select
- NM_001614
- Type
- single nucleotide variant
- Location
- chr17:81511495 (GRCh38)
- Gene constraint
- LOEUF 0.617 · pLI 0.46 (gnomAD)
- Structure
- AlphaFold pLDDT 95.44 · 11 PDB
- Residue 165
- a β-strand
Similar variants
- ACTG1 p.Ile165Asn Likely pathogenic ★ same residue
- ACTG1 p.Ile165Val Likely pathogenic ★ ⚠ same residue
- ACTG1 p.Ile165Thr Conflicting classifications of pathogenicity ★ ⚠ same residue
- ACTG1 p.Ala135Val Pathogenic/Likely pathogenic ★★ same type
- ACTG1 p.Ala204Gly Likely pathogenic ★★ same type
- ACTG1 p.Arg183Gln Pathogenic/Likely pathogenic ★★ same type
- ACTG1 p.Arg183Trp Pathogenic/Likely pathogenic ★★ same type
- ACTG1 p.Arg206Gln Pathogenic/Likely 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/actg1-p-ile165 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown