Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 5.69%, afr) — 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 -0.91 | GERP 4.3 |
| Overall | ||
| CADD | 5.131 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
5.69%
African / African-American · 4,251/74,764 alleles
Filtering AF
5.54%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5.48%
Overall
0.409%
6,582/1,607,582 alleles · common
exomes 3,927/1,455,264 · genomes 2,655/152,318 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 5.69% | 18 |
| Middle Eastern | 1.29% | 77 |
| Admixed American | 0.813% | 123 |
| Remaining individualsnot grpmax-eligible | 0.726% | 138 |
| Ashkenazi Jewishnot grpmax-eligible | 0.356% | 281 |
| European (non-Finnish) | 0.101% | 989 |
| South Asian | 0.0253% | 3,946 |
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
- IFNAR1
- Protein
- p.Asp71=
- Coding
- c.213T>C
- MANE Select
- NM_000629
- dbSNP
- rs9981753
- Type
- single nucleotide variant
- Location
- chr21:33341011 (GRCh38)
- Gene constraint
- LOEUF 1.73 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.71 · 5 PDB
- Residue 71
- the fibronectin type-iii 1 domain
Similar variants
- IFNAR1 p.Asp71Tyr Uncertain significance ★ ⚠ same residue
- IFNAR1 c.377-2A>G Likely pathogenic ★★ same type
- IFNAR1 p.Tyr250Ter Pathogenic/Likely pathogenic ★★ same type
- IFNAR1 p.Ala17Val Uncertain significance ★★ ⚠ same type
- IFNAR1 p.Ala408Val Uncertain significance ★★ ⚠ same type
- IFNAR1 p.Arg124His Uncertain significance ★★ ⚠ same type
- IFNAR1 p.Arg306His Uncertain significance ★★ ⚠ same type
- IFNAR1 p.Arg340Gly 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/ifnar1-p-asp71 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown