Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 43.5%, amr) — too common for a highly-penetrant pathogenic allele
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 5.4 | GERP 4.2, phastCons 1 |
| Overall | ||
| CADD | 22.0 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
43.5%
Admixed American · 23,969/55,160 alleles
Filtering AF
43%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 42.8%
Overall
24.3%
386,525/1,588,528 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 43.5% | 2 |
| Ashkenazi Jewishnot grpmax-eligible | 27.7% | 4 |
| East Asian | 25.6% | 4 |
| Remaining individualsnot grpmax-eligible | 25.1% | 4 |
| African / African-American | 24.2% | 4 |
| European (non-Finnish) | 24% | 4 |
| Middle Eastern | 23.3% | 4 |
| South Asian | 20.2% | 5 |
| Finnishnot grpmax-eligible | 17.6% | 6 |
| Amishnot grpmax-eligible | 10.3% | 10 |
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
- ABO
- Protein
- p.Phe216Ile
- Coding
- c.646T>A
- dbSNP
- rs8176740
- Type
- single nucleotide variant
- Location
- chr9:133256085 (GRCh38)
- Gene constraint
- LOEUF 1.416 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.59 · 151 PDB
- Residue 216
- a UniProt-annotated variant site (in); a β-strand
Similar variants
- ABO p.Ala177Thr Likely benign ★ same type
- ABO p.Glu276Lys Likely benign ★ same type
- ABO p.Gly268Ala Benign ★ same type
- ABO p.Ile256= Likely benign ★ same type
- ABO p.Leu324= Benign ★ same type
- ABO p.Pro74Ser Benign ★ same type
- ABO p.Val36Phe Benign ★ same type
- ABO p.Cys14Ter 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/abo-p-phe216ile (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown