ACTA1 p.Trp81Ter
c.243G>A · rs886039302 · VCV265024
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
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. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 7 |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 2.6, phastCons 1 |
| Overall | ||
| CADD | 46.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
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
- ACTA1
- Protein
- p.Trp81Ter
- Coding
- c.243G>A
- MANE Select
- NM_001100
- dbSNP
- rs886039302
- Type
- single nucleotide variant
- Location
- chr1:229432767 (GRCh38)
- Gene constraint
- LOEUF 0.931 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.21 · 5 PDB
- Residue 81
- an α-helix
Similar variants
- ACTA1 c.617-5C>A Likely pathogenic ★★★ same type
- ACTA1 c.990+1G>T Pathogenic ★★★ same type
- ACTA1 p.Asp13Asn Likely pathogenic ★★★ same type
- ACTA1 p.Asp290His Pathogenic ★★★ same type
- ACTA1 p.Asp58Asn Likely pathogenic ★★★ same type
- ACTA1 p.Cys376Phe Likely pathogenic ★★★ same type
- ACTA1 p.Cys376Ser Pathogenic ★★★ same type
- ACTA1 p.Glu102Lys 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/acta1-p-trp81ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown