ACTL7B p.Ala263=
c.789C>A · rs150394114 · VCV788593
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.83%, amr)
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 -11 | GERP -3.9 |
| Overall | ||
| CADD | 0.025 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.83%
Admixed American · 2,295/59,868 alleles
Filtering AF
3.7%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.65%
Overall
0.149%
2,396/1,611,260 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 3.83% | 26 |
| Remaining individualsnot grpmax-eligible | 0.0881% | 1,135 |
| African / African-American | 0.0466% | 2,144 |
| European (non-Finnish) | 0.000933% | 107,193 |
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
- ACTL7B
- Protein
- p.Ala263=
- Coding
- c.789C>A
- MANE Select
- NM_006686
- dbSNP
- rs150394114
- Type
- single nucleotide variant
- Location
- chr9:108855142 (GRCh38)
- Gene constraint
- LOEUF 1.414 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.35
Similar variants
- ACTL7B p.Ala164Thr Uncertain significance ★ ⚠ same type
- ACTL7B p.Ala240Val Uncertain significance ★ ⚠ same type
- ACTL7B p.Ala243Thr Uncertain significance ★ ⚠ same type
- ACTL7B p.Ala28Val Uncertain significance ★ ⚠ same type
- ACTL7B p.Ala2Val Uncertain significance ★ ⚠ same type
- ACTL7B p.Ala36Gly Uncertain significance ★ ⚠ same type
- ACTL7B p.Ala388Ser Uncertain significance ★ ⚠ same type
- ACTL7B p.Ala51Val Uncertain significance ★ ⚠ 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/actl7b-p-ala263 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown