TEAD4 p.Asp176=
c.528T>C · VCV3325182
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00169%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.207 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 2.3 | GERP -1.4, phastCons 1 |
| Overall | ||
| CADD | 13.92 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00169%
European (non-Finnish) · 20/1,179,978 alleles
Filtering AF
0.00111%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0009%
Overall
0.00143%
23/1,613,910 alleles · very rare
exomes 19/1,461,760 · genomes 4/152,150 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00169% | 58,999 |
| Admixed American | 0.00167% | 59,992 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,482 |
| African / African-American | 0.00133% | 74,908 |
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
- TEAD4
- Protein
- p.Asp176=
- Coding
- c.528T>C
- MANE Select
- NM_003213
- Type
- single nucleotide variant
- Location
- chr12:3019115 (GRCh38)
- Gene constraint
- LOEUF 0.889 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.75 · 23 PDB
Similar variants
- TEAD4 p.Ala115Thr Uncertain significance ★ ⚠ same type
- TEAD4 p.Ala136Val Uncertain significance ★ same type
- TEAD4 p.Ala166Val Uncertain significance ★ ⚠ same type
- TEAD4 p.Ala211Val Uncertain significance ★ ⚠ same type
- TEAD4 p.Ala264Ser Uncertain significance ★ ⚠ same type
- TEAD4 p.Ala30Ser Uncertain significance ★ ⚠ same type
- TEAD4 p.Ala424Pro Uncertain significance ★ ⚠ same type
- TEAD4 p.Ala56Thr 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/tead4-p-asp176 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown