TCAP p.Ser64=
c.192G>A · rs771585295 · VCV239546
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0333%, mid)
Conditions
3
Cardiovascular phenotype
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 -4.1 | GERP -5.3 |
| Overall | ||
| CADD | 0.885 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0333%
Middle Eastern · 2/6,006 alleles
Filtering AF
0.0164%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0139%
Overall
0.00205%
33/1,607,652 alleles · ultra-rare
exomes 31/1,455,374 · genomes 2/152,278 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0333% | 3,003 |
| South Asian | 0.0244% | 4,100 |
| Remaining individualsnot grpmax-eligible | 0.00321% | 31,134 |
| European (non-Finnish) | 0.000595% | 168,199 |
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
- TCAP
- Protein
- p.Ser64=
- Coding
- c.192G>A
- MANE Select
- NM_003673
- dbSNP
- rs771585295
- Type
- single nucleotide variant
- Location
- chr17:39665797 (GRCh38)
- Gene constraint
- LOEUF 1.374 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.89 · 2 PDB
Similar variants
- TCAP p.Ser64Leu Benign/Likely benign ★★ same residue
- TCAP p.Cys57Ter Pathogenic/Likely pathogenic ★★ same condition
- TCAP p.Gln53Ter Pathogenic/Likely pathogenic ★★ same condition
- TCAP p.Glu35Ter Pathogenic ★★ same condition
- TCAP p.Trp22Ter Pathogenic/Likely pathogenic ★★ same condition
- TCAP p.Trp25Ter Pathogenic/Likely pathogenic ★★ same condition
- TCAP c.110+4A>G Uncertain significance ★★ same condition
- TCAP c.*292G>A 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-ser64 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown