TRIP4 p.Val7=
c.21G>C · rs35604990 · VCV776912
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.71%, 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 1.3 | GERP 0.83, phastCons 0.001 |
| Overall | ||
| CADD | 4.955 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.71%
African / African-American · 2,712/73,136 alleles
Filtering AF
3.59%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.54%
Overall
0.198%
3,066/1,548,410 alleles · low-frequency
exomes 1,428/1,396,116 · genomes 1,638/152,294 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.71% | 27 |
| Admixed American | 0.244% | 410 |
| Remaining individualsnot grpmax-eligible | 0.22% | 455 |
| Middle Eastern | 0.155% | 646 |
| European (non-Finnish) | 0.00759% | 13,183 |
| South Asian | 0.00238% | 41,966 |
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
- TRIP4
- Protein
- p.Val7=
- Coding
- c.21G>C
- MANE Select
- NM_016213
- dbSNP
- rs35604990
- Type
- single nucleotide variant
- Location
- chr15:64387884 (GRCh38)
- Gene constraint
- LOEUF 0.802 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 71.54 · 10 PDB
Similar variants
- TRIP4 p.Val7Ala Conflicting classifications of pathogenicity ★ ⚠ same residue
- TRIP4 p.Val7_Ser8insAlaGlyAlaVal Uncertain significance ★ same residue
- TRIP4 c.272-1G>T Likely pathogenic ★★ same type
- TRIP4 p.Arg309Ter Pathogenic/Likely pathogenic ★★ same type
- TRIP4 p.Arg466Ter Pathogenic/Likely pathogenic ★★ same type
- TRIP4 p.Leu20Ter Pathogenic ★★ same type
- TRIP4 p.Trp297Ter Pathogenic ★★ same type
- TRIP4 p.Ala398Thr 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/trip4-p-val7 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown