KIF23 p.Val28=
c.84A>G · rs149437651 · VCV2918503
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0605%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.6 | GERP -3.5 |
| Overall | ||
| CADD | 1.57 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0605%
African / African-American · 45/74,408 alleles
Filtering AF
0.0464%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0415%
Overall
0.00388%
62/1,598,048 alleles · ultra-rare
exomes 27/1,445,696 · genomes 35/152,352 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0605% | 1,654 |
| Admixed American | 0.023% | 4,346 |
| Remaining individualsnot grpmax-eligible | 0.00647% | 15,458 |
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
- KIF23
- Protein
- p.Val28=
- Coding
- c.84A>G
- MANE Select
- NM_001367805
- dbSNP
- rs149437651
- Type
- single nucleotide variant
- Location
- chr15:69417385 (GRCh38)
- Gene constraint
- LOEUF 0.279 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 73.08 · 1 PDB
- Residue 28
- the kinesin motor domain
Similar variants
- KIF23 c.1930-3T>C Uncertain significance ★★ same type
- KIF23 p.Ala330Thr Uncertain significance ★★ ⚠ same type
- KIF23 p.Ala816Thr Uncertain significance ★★ ⚠ same type
- KIF23 p.Arg134Cys Uncertain significance ★★ ⚠ same type
- KIF23 p.Arg173Cys Uncertain significance ★★ ⚠ same type
- KIF23 p.Arg173His Uncertain significance ★★ ⚠ same type
- KIF23 p.Arg310Cys Uncertain significance ★★ ⚠ same type
- KIF23 p.Arg467Lys 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/kif23-p-val28 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown