PTDSS1 p.Phe267=
c.801C>T · VCV4780422
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000424%, nfe)
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 0.38 | GERP 0.76, phastCons 0.99 |
| Overall | ||
| CADD | 8.829 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000424%
European (non-Finnish) · 5/1,179,650 alleles
Filtering AF
0.000124%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 9e-05%
Overall
0.00031%
5/1,613,560 alleles · very rare
exomes 5/1,461,416 · genomes 0/152,144 · joint denominator
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
- PTDSS1
- Protein
- p.Phe267=
- Coding
- c.801C>T
- MANE Select
- NM_014754
- Type
- single nucleotide variant
- Location
- chr8:96304088 (GRCh38)
- Gene constraint
- LOEUF 0.776 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.33 · 6 PDB
Similar variants
- PTDSS1 p.Arg95Gln Pathogenic/Likely pathogenic ★★ same type
- PTDSS1 p.Ala140Thr Uncertain significance ★★ ⚠ same type
- PTDSS1 p.Arg238Gln Uncertain significance ★★ ⚠ same type
- PTDSS1 p.Glu212Lys Uncertain significance ★★ ⚠ same type
- PTDSS1 p.Gly229Asp Uncertain significance ★★ ⚠ same type
- PTDSS1 p.His246Gln Uncertain significance ★★ ⚠ same type
- PTDSS1 p.Leu292Phe Uncertain significance ★★ ⚠ same type
- PTDSS1 p.Leu307Trp 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/ptdss1-p-phe267 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown