TRRAP p.Arg696His
c.2087G>A · rs200324989 · VCV1519562
Computational evidence
| Protein change | ||
| AlphaMissense | 0.2449 | likely benign |
|---|---|---|
| REVEL | 0.41 | indeterminate |
| SaProt | — | not scored · why |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 1.8, phastCons 1 |
| Regional constraint | o/e 0.49 | unconstrained · MANE · 7,100 bp · p 9.7e-19 · regional, not allelic |
| Overall | ||
| CADD | 32.0 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL is an independent agreement signal.
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Amishnot grpmax-eligible | 0.11% | 910 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0338% | 2,960 |
| European (non-Finnish)grpmax | 0.0287% | 3,481 |
| Remaining individualsnot grpmax-eligible | 0.0256% | 3,905 |
| Admixed American | 0.02% | 4,999 |
| South Asian | 0.00769% | 13,011 |
| African / African-American | 0.00534% | 18,724 |
| Finnishnot grpmax-eligible | 0.00312% | 32,013 |
Amish 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
- TRRAP
- Protein
- p.Arg696His
- Coding
- c.2087G>A
- MANE Select
- NM_001375524
- dbSNP
- rs200324989
- Type
- single nucleotide variant
- Location
- chr7:98912101 (GRCh38)
- Gene constraint
- LOEUF 0.115 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
Similar variants
- TRRAP p.Arg696Cys Uncertain significance ★ same residue
- TRRAP p.Arg1035Gln Pathogenic/Likely pathogenic ★★ same type
- TRRAP p.Glu1104Gly Pathogenic/Likely pathogenic ★★ same type
- TRRAP p.Glu1106Lys Likely pathogenic ★★ same type
- TRRAP p.Met3318Val Pathogenic/Likely pathogenic ★★ same type
- TRRAP p.Val1030Ile Likely pathogenic ★★ same type
- TRRAP c.2622+3A>G Uncertain significance ★★ same type
- TRRAP c.7176+4A>G 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/trrap-p-arg696his (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown