ACTC1 p.Val211=
c.633C>A · rs199947846 · VCV509022
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.47e-05%, nfe)
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 1.7 | GERP -1.6, phastCons 1 |
| Overall | ||
| CADD | 8.797 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.47e-05%
European (non-Finnish) · 1/1,180,038 alleles
Overall
6.84e-05%
1/1,461,886 alleles · very rare
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ACTC1
- Protein
- p.Val211=
- Coding
- c.633C>A
- MANE Select
- NM_005159
- dbSNP
- rs199947846
- Type
- single nucleotide variant
- Location
- chr15:34792265 (GRCh38)
- Gene constraint
- LOEUF 0.511 · pLI 0.97 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 95.47 · 16 PDB
- Residue 211
- an α-helix
Similar variants
- ACTC1 p.Val211_Ile214del Uncertain significance ★ same residue
- ACTC1 p.Glu101Lys Pathogenic ★★★ same type
- ACTC1 p.Gly345Val Uncertain significance ★★★ ⚠ same type
- ACTC1 p.Pro266Leu Uncertain significance ★★★ ⚠ same type
- ACTC1 p.Val56Ile Uncertain significance ★★★ ⚠ same type
- ACTC1 p.Ala297Ser Pathogenic ★★ ⚠ same type
- ACTC1 p.Gly247Asp Pathogenic/Likely pathogenic ★★ same type
- ACTC1 p.Thr128Ile 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/actc1-p-val211 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown