PIEZO1 p.Pro47=
c.141C>T · rs748424033 · VCV3027052
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00622%, sas)
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 1.6 | GERP -1.5, phastCons 0.99 |
| Overall | ||
| CADD | 3.655 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00622%
South Asian · 5/80,354 alleles
Filtering AF
0.00242%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00152%
Overall
0.000659%
10/1,517,248 alleles · very rare
exomes 9/1,365,000 · genomes 1/152,248 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00622% | 16,071 |
| Admixed American | 0.00417% | 24,008 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00353% | 28,302 |
| Remaining individualsnot grpmax-eligible | 0.00169% | 59,236 |
| European (non-Finnish) | 8.78e-05% | 1,139,478 |
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
- PIEZO1
- Protein
- p.Pro47=
- Coding
- c.141C>T
- MANE Select
- NM_001142864
- dbSNP
- rs748424033
- Type
- single nucleotide variant
- Location
- chr16:88749403 (GRCh38)
- Gene constraint
- LOEUF 1.17 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.74 · 6 PDB
Similar variants
- PIEZO1 p.Pro47Arg Uncertain significance ★ ⚠ same residue
- PIEZO1 p.Ala2003Asp Likely pathogenic ★★ same type
- PIEZO1 p.Ala2020Thr Pathogenic/Likely pathogenic ★★ same type
- PIEZO1 p.Arg1164Ter Pathogenic/Likely pathogenic ★★ same type
- PIEZO1 p.Arg2088Gly Likely pathogenic ★★ same type
- PIEZO1 p.Arg2456His Pathogenic ★★ same type
- PIEZO1 p.Gln1125Ter Pathogenic/Likely pathogenic ★★ same type
- PIEZO1 p.Gln422Ter 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/piezo1-p-pro47 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown