TRRAP p.Pro507=
c.1521T>C · rs1219844009 · VCV774192
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 26.2%, sas) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. | ||
| REVEL | 0.059 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Overall | ||
| CADD | 1.334 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
26.2%
South Asian · 5,417/20,640 alleles
Filtering AF
25.7%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 25.4%
Overall
10.3%
26,113/254,342 alleles · common
exomes 24,476/235,356 · genomes 1,637/18,986 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 26.2% | 4 |
| Finnishnot grpmax-eligible | 16.5% | 6 |
| Admixed American | 15.2% | 7 |
| Ashkenazi Jewishnot grpmax-eligible | 12.2% | 8 |
| East Asian | 11.4% | 9 |
| Remaining individualsnot grpmax-eligible | 11.2% | 9 |
| African / African-American | 10% | 10 |
| Middle Eastern | 9.38% | 11 |
| European (non-Finnish) | 7.88% | 13 |
| Amishnot grpmax-eligible | 4.26% | 23 |
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.Pro507=
- Coding
- c.1521T>C
- MANE Select
- NM_001375524
- dbSNP
- rs1219844009
- Type
- single nucleotide variant
- Location
- chr7:98910226 (GRCh38)
- Gene constraint
- LOEUF 0.115 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Residue 507
- the 'disordered' region
Similar variants
- TRRAP p.Pro507Leu Conflicting classifications of pathogenicity ★ ⚠ 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-pro507 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown