FIBP p.Val215=
c.645C>T · rs34330224 · VCV781006
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.706%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>T here scores Δ0.82 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.82 | GERP -3.1 |
| Overall | ||
| CADD | 8.631 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.706%
African / African-American · 530/75,026 alleles
Filtering AF
0.657%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.637%
Overall
0.0406%
655/1,613,316 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.706% | 142 |
| Remaining individualsnot grpmax-eligible | 0.0464% | 2,154 |
| Admixed American | 0.0417% | 2,396 |
| European (non-Finnish) | 0.00551% | 18,146 |
| South Asian | 0.00439% | 22,763 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,560 |
| East Asian | 0.00223% | 44,864 |
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.Val215=
- Coding
- c.645C>T
- MANE Select
- NM_004214
- dbSNP
- rs34330224
- Type
- single nucleotide variant
- Location
- chr11:65885531 (GRCh38)
- Gene constraint
- LOEUF 1.009 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.33
Similar variants
- FIBP p.Val215Ile Uncertain significance ★ ⚠ same residue
- 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
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-val215 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown