ACTN1 p.Met809Val
c.2425A>G · VCV3483992
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.077 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | phastCons 1 |
| Regional constraint | o/e 0.60 | unconstrained · MANE · 32 kb · p 3.7e-34 · regional, not allelic |
| Overall | ||
| CADD | 24.4 | 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
- ACTN1
- Protein
- p.Met809Val
- Coding
- c.2425A>G
- MANE Select
- NM_001130004
- Type
- single nucleotide variant
- Location
- chr14:68878460 (GRCh38)
- Gene constraint
- LOEUF 0.331 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 85.39 · 4 PDB
- Residue 809
- an α-helix; the ef-hand 2 domain
Similar variants
- ACTN1 p.Ala48Val Uncertain significance ★★ ⚠ same condition
- ACTN1 p.Arg475His Uncertain significance ★★ ⚠ same condition
- ACTN1 p.Asn824Ser Uncertain significance ★★ ⚠ same condition
- ACTN1 p.Asp11Asn Uncertain significance ★★ ⚠ same condition
- ACTN1 p.Asp868Asn Uncertain significance ★★ ⚠ same condition
- ACTN1 p.Asp868Gly Uncertain significance ★★ ⚠ same condition
- ACTN1 p.Glu273Lys Uncertain significance ★★ ⚠ same condition
- ACTN1 p.Glu423Gly 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/actn1-p-met809val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown