TDRD7 p.Pro329=
c.987G>A · rs761704668 · VCV914625
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0107%, nfe)
Conditions
1
cataract 36
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.75 | GERP -4.8 |
| Overall | ||
| CADD | 1.079 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0107%
European (non-Finnish) · 126/1,180,038 alleles
Filtering AF
0.00911%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00855%
Overall
0.00861%
139/1,614,098 alleles · ultra-rare
exomes 129/1,461,848 · genomes 10/152,250 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0107% | 9,365 |
| African / African-American | 0.008% | 12,494 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,621 |
| South Asian | 0.0022% | 45,544 |
| Admixed American | 0.00167% | 60,008 |
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
- TDRD7
- Protein
- p.Pro329=
- Coding
- c.987G>A
- MANE Select
- NM_014290
- dbSNP
- rs761704668
- Type
- single nucleotide variant
- Location
- chr9:97460309 (GRCh38)
- Gene constraint
- LOEUF 0.521 · pLI 0.37 (gnomAD)
- Structure
- AlphaFold pLDDT 73.60 · 1 PDB
Similar variants
- TDRD7 p.Ala651Thr Uncertain significance ★★ ⚠ same condition
- TDRD7 p.Ala895Thr Uncertain significance ★★ ⚠ same condition
- TDRD7 p.Ala958Thr Uncertain significance ★★ ⚠ same condition
- TDRD7 p.Arg1013Gln Uncertain significance ★★ ⚠ same condition
- TDRD7 p.Arg99Cys Uncertain significance ★★ ⚠ same condition
- TDRD7 p.Asn631Ser Uncertain significance ★★ ⚠ same condition
- TDRD7 p.Glu63Asp Uncertain significance ★★ ⚠ same condition
- TDRD7 p.His421Asn Uncertain significance ★★ ⚠ 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/tdrd7-p-pro329 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown