TRIM63 p.Val89=
c.267G>T · rs35123100 · VCV1264681
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Common
common (popmax 9.48%, nfe) — too common for a highly-penetrant pathogenic allele
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 -2.2 | GERP -2.4 |
| Overall | ||
| CADD | 6.57 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
9.48%
European (non-Finnish) · 111,843/1,179,968 alleles
Filtering AF
9.43%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 9.41%
Overall
7.8%
125,952/1,614,078 alleles · common
exomes 117,271/1,461,814 · genomes 8,681/152,264 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 9.48% | 11 |
| Finnishnot grpmax-eligible | 6.67% | 15 |
| Remaining individualsnot grpmax-eligible | 6.44% | 16 |
| Ashkenazi Jewishnot grpmax-eligible | 5.73% | 17 |
| Amishnot grpmax-eligible | 4.93% | 20 |
| Admixed American | 3.25% | 31 |
| African / African-American | 1.34% | 75 |
| South Asian | 1.15% | 87 |
| Middle Eastern | 1.07% | 93 |
| East Asian | 0.00668% | 14,960 |
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
- TRIM63
- Protein
- p.Val89=
- Coding
- c.267G>T
- MANE Select
- NM_032588
- dbSNP
- rs35123100
- Type
- single nucleotide variant
- Location
- chr1:26066333 (GRCh38)
- Gene constraint
- LOEUF 1.329 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.88 · 3 PDB
- Residue 89
- the 'interaction with ttn' region
Similar variants
- TRIM63 p.Val89Met Uncertain significance ★ ⚠ same residue
- TRIM63 p.Ala244Val Uncertain significance ★★ ⚠ same type
- TRIM63 p.Ala289Val Uncertain significance ★★ ⚠ same type
- TRIM63 p.Arg112Gln Uncertain significance ★★ ⚠ same type
- TRIM63 p.Arg183His Uncertain significance ★★ ⚠ same type
- TRIM63 p.Arg230Trp Uncertain significance ★★ ⚠ same type
- TRIM63 p.Arg62Gln Uncertain significance ★★ ⚠ same type
- TRIM63 p.Arg62Trp 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/trim63-p-val89 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown