TRIM63 p.Pro113=
c.339G>A · VCV3907494
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00668%, eas)
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 0.21 | GERP -4.5, phastCons 0.92 |
| Overall | ||
| CADD | 10.56 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00668%
East Asian · 3/44,888 alleles
Filtering AF
0.00454%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00417%
Overall
0.00471%
76/1,613,768 alleles · very rare
exomes 72/1,461,556 · genomes 4/152,212 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00668% | 14,963 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,620 |
| European (non-Finnish) | 0.00568% | 17,610 |
| African / African-American | 0.00133% | 74,930 |
| South Asian | 0.0011% | 91,076 |
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.Pro113=
- Coding
- c.339G>A
- MANE Select
- NM_032588
- Type
- single nucleotide variant
- Location
- chr1:26061328 (GRCh38)
- Gene constraint
- LOEUF 1.329 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.88 · 3 PDB
- Residue 113
- the 'interaction with ttn' region
Similar variants
- TRIM63 p.Pro113Leu 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-pro113 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown