FIBP p.Pro73=
c.219G>T · rs11559153 · VCV712102
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.523%, nfe)
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 -0.72 | GERP -2.8, phastCons 0.005 |
| Overall | ||
| CADD | 9.13 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.523%
European (non-Finnish) · 6,165/1,179,822 alleles
Filtering AF
0.512%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.507%
Overall
0.43%
6,938/1,613,298 alleles · rare
exomes 6,531/1,461,012 · genomes 407/152,286 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.523% | 191 |
| South Asian | 0.458% | 218 |
| Remaining individualsnot grpmax-eligible | 0.29% | 345 |
| Middle Eastern | 0.116% | 865 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0879% | 1,138 |
| African / African-American | 0.0839% | 1,191 |
| Finnishnot grpmax-eligible | 0.0723% | 1,383 |
| Admixed American | 0.055% | 1,817 |
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
- FIBP
- Protein
- p.Pro73=
- Coding
- c.219G>T
- MANE Select
- NM_004214
- dbSNP
- rs11559153
- Type
- single nucleotide variant
- Location
- chr11:65887999 (GRCh38)
- Gene constraint
- LOEUF 1.009 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.33
Similar variants
- FIBP p.Asp223Gly Uncertain significance ★★ same type
- FIBP p.Leu352Arg Uncertain significance ★★ ⚠ same type
- FIBP c.1004+33T>C Benign ★★ same type
- FIBP p.Ala50= Benign ★★ same type
- FIBP p.Gly187= Likely benign ★★ same type
- FIBP p.Gly263= Likely benign ★★ same type
- FIBP p.Leu240= Benign/Likely benign ★★ same type
- FIBP p.Leu299= Benign/Likely 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/fibp-p-pro73 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown