FOXP2 p.Ala307=
c.921A>G · rs1563054014 · VCV589661
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0134%, afr)
Conditions
1
Inborn genetic diseases
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 0.21 | GERP -3, phastCons 0.3 |
| Overall | ||
| CADD | 5.704 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0134%
African / African-American · 10/74,820 alleles
Filtering AF
0.00724%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00551%
Overall
0.000868%
14/1,613,754 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0134% | 7,482 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,621 |
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
- FOXP2
- Protein
- p.Ala307=
- Coding
- c.921A>G
- MANE Select
- NM_014491
- dbSNP
- rs1563054014
- Type
- single nucleotide variant
- Location
- chr7:114642555 (GRCh38)
- Gene constraint
- LOEUF 0.157 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 60.82 · 2 PDB
- Residue 307
- the 'disordered' region
Similar variants
- FOXP2 p.Arg328Ter Pathogenic ★★ same condition
- FOXP2 p.Gln168Ter Pathogenic/Likely pathogenic ★★ same condition
- FOXP2 p.Glu712Ala Uncertain significance ★★ same condition
- FOXP2 p.Pro310Ser Uncertain significance ★★ ⚠ same condition
- FOXP2 p.Ser619Asn Uncertain significance ★★ same condition
- FOXP2 p.Val426Leu Uncertain significance ★★ ⚠ same condition
- FOXP2 p.Ala615Thr Benign/Likely benign ★★ ⚠ same condition
- FOXP2 p.Ala640= Likely benign ★★ 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/foxp2-p-ala307 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown