CHIA p.Ile272=
c.816C>A · rs139093708 · VCV782080
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 -4 | GERP -2.4 |
| Overall | ||
| CADD | 0.774 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Finnishnot grpmax-eligible | 1.19% | 84 |
| European (non-Finnish)grpmax | 0.608% | 165 |
| Remaining individualsnot grpmax-eligible | 0.509% | 197 |
| Admixed American | 0.245% | 408 |
| Ashkenazi Jewishnot grpmax-eligible | 0.196% | 510 |
| South Asian | 0.135% | 741 |
| African / African-American | 0.0773% | 1,294 |
| Middle Eastern | 0.066% | 1,516 |
| East Asian | 0.00446% | 22,436 |
Finnish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.
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
- CHIA
- Protein
- p.Ile272=
- Coding
- c.816C>A
- MANE Select
- NM_201653
- dbSNP
- rs139093708
- Type
- single nucleotide variant
- Location
- chr1:111318579 (GRCh38)
- Gene constraint
- LOEUF 1.063 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.65 · 8 PDB
- Residue 272
- a disulfide bond; the gh18 domain; a β-strand
Similar variants
- CHIA p.Ile272Asn Uncertain significance ★ ⚠ same residue
- CHIA p.Ala295Thr Benign/Likely benign ★★ same type
- CHIA p.Ala57Thr Likely benign ★★ ⚠ same type
- CHIA p.Arg35Trp Benign ★★ ⚠ same type
- CHIA p.Gly317Glu Benign ★★ same type
- CHIA p.Gly356= Benign ★★ same type
- CHIA p.Lys251= Benign ★★ same type
- CHIA p.Ala182Thr 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/chia-p-ile272 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown