TRIP11 p.Pro885=
c.2655T>G · rs780729641 · VCV1670917
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 -6.8 | GERP -4 |
| Overall | ||
| CADD | 1.241 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,506 |
| South Asiangrpmax | 0.0011% | 91,072 |
Remaining individuals shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.
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
- TRIP11
- Protein
- p.Pro885=
- Coding
- c.2655T>G
- MANE Select
- NM_004239
- dbSNP
- rs780729641
- Type
- single nucleotide variant
- Location
- chr14:92005321 (GRCh38)
- Gene constraint
- LOEUF 0.731 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 66.78
- Residue 885
- a UniProt-annotated variant site (in odcd1; due to a nucleotide substitution that causes protein truncation or in-frame exon 4 skipping); a UniProt-annotated variant site (in acg1a and odcd1)
Disease context
achondrogenesis type IA — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Achondrogenesis (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive
- Onset
- Antenatal, Neonatal
- Prevalence
- 1-9 / 100 000 (France)
Similar variants
- TRIP11 p.Arg1028Ter Pathogenic/Likely pathogenic ★★ same condition
- TRIP11 p.Arg255Ter Pathogenic ★★ same condition
- TRIP11 p.Arg264Ter Pathogenic ★★ same condition
- TRIP11 p.Arg871Ter Pathogenic ★★ same condition
- TRIP11 p.Gln1758Ter Pathogenic/Likely pathogenic ★★ same condition
- TRIP11 p.Leu1321Ter Pathogenic/Likely pathogenic ★★ same condition
- TRIP11 p.Trp1224Ter Pathogenic ★★ same condition
- TRIP11 c.5719+2T>C 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/trip11-p-pro885 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown