TCAP p.Arg17Ser
c.49C>A · VCV4181385
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.3587 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Cardiovascular phenotype
Computational evidence
| Protein change | ||
| AlphaMissense | 0.3587 | ambiguous |
|---|---|---|
| REVEL | 0.484 | indeterminate |
| SaProt | LLR -8.34 | tolerated |
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · C>T here scores Δ0.63 · evaluated, not missing |
| Constraint at this position | ||
| Conservation | phyloP 1.1 | GERP 0.18, phastCons 1 |
| Regional constraint | o/e 0.95 | unconstrained · MANE · 746 bp · p 0.44 · regional, not allelic |
| Overall | ||
| CADD | 21.2 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- TCAP
- Protein
- p.Arg17Ser
- Coding
- c.49C>A
- MANE Select
- NM_003673
- Type
- single nucleotide variant
- Location
- chr17:39665408 (GRCh38)
- Gene constraint
- LOEUF 1.374 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.89 · 2 PDB
- Residue 17
- a turn
Similar variants
- TCAP p.Arg17= Likely benign ★ same residue
- TCAP p.Arg17Cys Uncertain significance ★★ ⚠ same residue
- TCAP p.Arg17His Uncertain significance ★★ ⚠ same residue
- TCAP p.Arg17Leu Uncertain significance ★ ⚠ same residue
- TCAP p.Arg17delinsLeuTer Pathogenic/Likely pathogenic ★★ same residue
- TCAP p.Gln53Ter Pathogenic/Likely pathogenic ★★ same condition
- TCAP c.110+4A>G Uncertain significance ★★ same condition
- TCAP p.Arg130His 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/tcap-p-arg17ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown