PPCS p.Pro11=
c.33C>T · rs567354934 · VCV1595531
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.127%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not looked up on this page · why |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.7 | GERP -4.1 |
| Overall | ||
| CADD | 6.6 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.127%
Admixed American · 54/42,418 alleles
Filtering AF
0.1%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0905%
Overall
0.0047%
71/1,510,902 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.127% | 786 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0299% | 3,345 |
| European (non-Finnish) | 0.000883% | 113,217 |
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
- PPCS
- Protein
- p.Pro11=
- Coding
- c.33C>T
- MANE Select
- NM_001395517 · reported on NM_024664
- dbSNP
- rs567354934
- Type
- single nucleotide variant
- Location
- chr1:42456598 (GRCh38)
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/ppcs-p-pro11 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown