TTPA p.Arg34=
c.102G>A · rs758641202 · VCV1110931
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00424%, 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 -3.1 | GERP -3.6 |
| Overall | ||
| CADD | 10.47 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00424%
African / African-American · 3/70,800 alleles
Filtering AF
0.00113%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000612%
Overall
0.000394%
6/1,523,700 alleles · very rare
exomes 2/1,371,650 · genomes 4/152,050 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00424% | 23,600 |
| South Asian | 0.00121% | 82,674 |
| European (non-Finnish) | 0.000175% | 570,812 |
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.Arg34=
- Coding
- c.102G>A
- MANE Select
- NM_000370
- dbSNP
- rs758641202
- Type
- single nucleotide variant
- Location
- chr8:63085920 (GRCh38)
- Gene constraint
- LOEUF 1.276 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.44 · 6 PDB
- Residue 34
- an α-helix
Similar variants
- TTPA p.Arg34Gln Uncertain significance ★ ⚠ 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
- TTPA p.Arg134Ter 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-arg34 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown