ASGR2 p.Thr302=
c.906C>T · rs143467270 · VCV721041
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.19%, afr)
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 -2.7 | GERP -5.4 |
| Overall | ||
| CADD | 2.838 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.19%
African / African-American · 894/75,052 alleles
Filtering AF
1.13%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1%
Overall
0.0634%
1,023/1,614,110 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.19% | 84 |
| Remaining individualsnot grpmax-eligible | 0.0784% | 1,276 |
| Admixed American | 0.065% | 1,539 |
| Middle Eastern | 0.0495% | 2,021 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,606 |
| South Asian | 0.00329% | 30,358 |
| European (non-Finnish) | 0.0028% | 35,758 |
| Finnishnot grpmax-eligible | 0.00156% | 63,996 |
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
- ASGR2
- Protein
- p.Thr302=
- Coding
- c.906C>T
- MANE Select
- NM_001201352
- dbSNP
- rs143467270
- Type
- single nucleotide variant
- Location
- chr17:7101590 (GRCh38)
- Gene constraint
- LOEUF 1.365 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.50 · 1 PDB
- Residue 302
- a β-strand; the c-type lectin domain
Similar variants
- ASGR2 p.Thr302Pro Uncertain significance ★ ⚠ same residue
- ASGR2 p.Gly303= Benign ★★ same type
- ASGR2 c.241+11C>A Uncertain significance ★ ⚠ same type
- ASGR2 p.Ala108Pro Uncertain significance ★ ⚠ same type
- ASGR2 p.Ala108Thr Uncertain significance ★ ⚠ same type
- ASGR2 p.Arg153Cys Uncertain significance ★ ⚠ same type
- ASGR2 p.Arg169Lys Uncertain significance ★ ⚠ same type
- ASGR2 p.Arg248Lys 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/asgr2-p-thr302 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown