TRPC5 p.Pro128=
c.384C>T · rs58337149 · VCV734920
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.06%, afr)
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 1.1 | GERP -4.4, phastCons 1 |
| Overall | ||
| CADD | 5.924 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.06%
African / African-American · 1,741/56,884 alleles
Filtering AF
2.94%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.89%
Overall
0.173%
2,062/1,193,305 alleles · low-frequency
exomes 1,127/1,082,158 · genomes 935/111,147 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.06% | 33 |
| Admixed American | 0.336% | 298 |
| Remaining individualsnot grpmax-eligible | 0.249% | 401 |
| Middle Eastern | 0.162% | 618 |
| South Asian | 0.00723% | 13,831 |
| European (non-Finnish) | 0.00437% | 22,865 |
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
- TRPC5
- Protein
- p.Pro128=
- Coding
- c.384C>T
- MANE Select
- NM_012471
- dbSNP
- rs58337149
- Type
- single nucleotide variant
- Location
- chrX:111912807 (GRCh38)
- Structure
- AlphaFold pLDDT 73.82 · 30 PDB
Similar variants
- TRPC5 p.Ala929Thr Uncertain significance ★ ⚠ same type
- TRPC5 p.Arg120Gln Uncertain significance ★ ⚠ same type
- TRPC5 p.Arg175Cys Uncertain significance ★ ⚠ same type
- TRPC5 p.Arg17Cys Uncertain significance ★ ⚠ same type
- TRPC5 p.Arg17His Uncertain significance ★ ⚠ same type
- TRPC5 p.Arg17Leu Uncertain significance ★ ⚠ same type
- TRPC5 p.Arg222Cys Uncertain significance ★ ⚠ same type
- TRPC5 p.Arg263Lys 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/trpc5-p-pro128 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown