IFITM5 p.Pro32=
c.96G>A · rs369340601 · VCV1257062
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0495%, sas)
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 -16 | GERP -2.3 |
| Overall | ||
| CADD | 0.155 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0495%
South Asian · 42/84,912 alleles
Filtering AF
0.0375%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0334%
Overall
0.0119%
186/1,566,870 alleles · ultra-rare
exomes 177/1,414,728 · genomes 9/152,142 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0495% | 2,022 |
| Remaining individualsnot grpmax-eligible | 0.0264% | 3,791 |
| European (non-Finnish) | 0.0105% | 9,569 |
| African / African-American | 0.00546% | 18,301 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00355% | 28,184 |
| East Asian | 0.00239% | 41,816 |
| Admixed American | 0.00187% | 53,368 |
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
- IFITM5
- Protein
- p.Pro32=
- Coding
- c.96G>A
- MANE Select
- NM_001025295
- dbSNP
- rs369340601
- Type
- single nucleotide variant
- Location
- chr11:299395 (GRCh38)
- Gene constraint
- LOEUF 1.83 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 65.49
Similar variants
- IFITM5 p.Pro32Leu Likely benign ★★ same residue
- IFITM5 p.Pro32Arg Uncertain significance ★ ⚠ same residue
- IFITM5 p.Pro32Ser Uncertain significance ★ ⚠ same residue
- IFITM5 c.-14C>T Pathogenic ★★ same type
- IFITM5 p.Ser40Leu Pathogenic ★★ same type
- IFITM5 p.Ser40Trp Pathogenic/Likely pathogenic ★★ same type
- IFITM5 p.Ala112Gly Uncertain significance ★★ ⚠ same type
- IFITM5 p.Ala12Val 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/ifitm5-p-pro32 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown