PIEZO2 p.Arg482fs
c.1444del · rs2144239123 · VCV1172831
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 12 of 56 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.59 | GERP 0.7, phastCons 0.17 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- PIEZO2
- Protein
- p.Arg482fs
- Coding
- c.1444del
- MANE Select
- NM_001378183
- dbSNP
- rs2144239123
- Type
- Deletion
- Location
- chr18:10797457 (GRCh38)
- Gene constraint
- LOEUF 0.563 · pLI <0.01 (gnomAD)
Similar variants
- PIEZO2 p.Cys1260fs Pathogenic/Likely pathogenic ★★ same type
- PIEZO2 p.Lys1592fs Pathogenic/Likely pathogenic ★★ same type
- PIEZO2 p.Pro92fs Likely pathogenic ★★ same type
- PIEZO2 p.Ser908fs Pathogenic/Likely pathogenic ★★ same type
- PIEZO2 p.Thr2205fs Pathogenic ★★ same type
- PIEZO2 c.2170-18del Benign/Likely benign ★★ same type
- PIEZO2 c.2170-19_2170-18del Benign ★★ same type
- PIEZO2 c.2492+48del Benign ★★ 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/piezo2-p-arg482fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown