TTPA p.Pro41=
c.123G>T · rs1368032681 · VCV1641639
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0028%, afr)
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 -2 | GERP -3.4 |
| Overall | ||
| CADD | 9.392 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0028%
African / African-American · 2/71,510 alleles
Filtering AF
0.000464%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000174%
Overall
0.000196%
3/1,529,376 alleles · very rare
exomes 1/1,377,276 · genomes 2/152,100 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0028% | 35,755 |
| European (non-Finnish) | 8.74e-05% | 1,143,572 |
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
- TTPA
- Protein
- p.Pro41=
- Coding
- c.123G>T
- MANE Select
- NM_000370
- dbSNP
- rs1368032681
- Type
- single nucleotide variant
- Location
- chr8:63085899 (GRCh38)
- Gene constraint
- LOEUF 1.276 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.44 · 6 PDB
Similar variants
- TTPA p.Pro41Arg Uncertain significance ★★ ⚠ same residue
- TTPA p.Pro41fs Likely pathogenic ★ same residue
- TTPA c.205-1G>C Pathogenic ★★ same type
- TTPA c.205-2A>G Pathogenic/Likely pathogenic ★★ same type
- TTPA c.553-1G>T Pathogenic ★★ same type
- TTPA c.663+1G>A Pathogenic/Likely pathogenic ★★ same type
- TTPA p.Ala120Thr Pathogenic/Likely pathogenic ★★ ⚠ same type
- TTPA p.Ala58Asp Likely pathogenic ★★ 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/ttpa-p-pro41 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown