KIFBP p.Pro77=
c.231G>A · rs781761858 · VCV1681410
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00721%, 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 -1.5 | GERP -4.2 |
| Overall | ||
| CADD | 4.4 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00721%
European (non-Finnish) · 85/1,178,996 alleles
Filtering AF
0.00596%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00549%
Overall
0.00533%
86/1,612,494 alleles · very rare
exomes 86/1,460,112 · genomes 0/152,382 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00721% | 13,871 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,404 |
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
- KIFBP
- Protein
- p.Pro77=
- Coding
- c.231G>A
- MANE Select
- NM_015634
- dbSNP
- rs781761858
- Type
- single nucleotide variant
- Location
- chr10:68989063 (GRCh38)
- Gene constraint
- LOEUF 1.016 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.76 · 6 PDB
Similar variants
- KIFBP p.Pro77Arg Uncertain significance ★ ⚠ same residue
- KIFBP p.Ser200Ter Pathogenic ★★ same type
- KIFBP p.Ala243Gly Uncertain significance ★★ ⚠ same type
- KIFBP p.Ala39Gly Uncertain significance ★★ same type
- KIFBP p.Ala490Thr Uncertain significance ★★ ⚠ same type
- KIFBP p.Ala590Thr Uncertain significance ★★ ⚠ same type
- KIFBP p.Arg237His Uncertain significance ★★ ⚠ same type
- KIFBP p.Arg359Gln 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/kifbp-p-pro77 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown