TEAD1 p.Asp62=
c.186C>T · rs372838270 · VCV1166743
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0827%, afr)
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 -5.6 | GERP -3.9 |
| Overall | ||
| CADD | 8.941 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0827%
African / African-American · 62/75,006 alleles
Filtering AF
0.0661%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0602%
Overall
0.00595%
96/1,614,078 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0827% | 1,210 |
| Admixed American | 0.02% | 5,002 |
| Middle Eastern | 0.0165% | 6,060 |
| South Asian | 0.00549% | 18,215 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,835 |
| East Asian | 0.00223% | 44,866 |
| European (non-Finnish) | 0.00102% | 98,335 |
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
- TEAD1
- Protein
- p.Asp62=
- Coding
- c.186C>T
- MANE Select
- NM_021961
- dbSNP
- rs372838270
- Type
- single nucleotide variant
- Location
- chr11:12764418 (GRCh38)
- Gene constraint
- LOEUF 0.276 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 77.43 · 14 PDB
- Residue 62
- a DNA-binding region; a β-strand
Similar variants
- TEAD1 c.575-3C>T Uncertain significance ★★ same type
- TEAD1 p.Ala123Val Uncertain significance ★★ same type
- TEAD1 p.Ala188Thr Uncertain significance ★★ ⚠ same type
- TEAD1 p.Ala200Val Uncertain significance ★★ ⚠ same type
- TEAD1 p.Ala205Pro Uncertain significance ★★ ⚠ same type
- TEAD1 p.Ala23Val Uncertain significance ★★ ⚠ same type
- TEAD1 p.Arg147His Uncertain significance ★★ ⚠ same type
- TEAD1 p.Arg229Gln 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/tead1-p-asp62 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown