KANK4 p.Asp8=
c.24C>T · rs17123318 · VCV1241439
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Common
common (popmax 12.9%, eas) — too common for a highly-penetrant pathogenic allele
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 3.2 | GERP 0.03, phastCons 1 |
| Overall | ||
| CADD | 8.059 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
12.9%
East Asian · 5,758/44,652 alleles
Filtering AF
12.6%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 12.5%
Overall
4.5%
71,644/1,593,456 alleles · common
exomes 65,159/1,441,548 · genomes 6,485/151,908 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 12.9% | 8 |
| South Asian | 10.4% | 10 |
| Admixed American | 9.34% | 11 |
| Middle Eastern | 7.12% | 14 |
| Ashkenazi Jewishnot grpmax-eligible | 5.53% | 18 |
| Remaining individualsnot grpmax-eligible | 4.9% | 20 |
| Finnishnot grpmax-eligible | 4.18% | 24 |
| European (non-Finnish) | 3.67% | 27 |
| Amishnot grpmax-eligible | 3.18% | 31 |
| African / African-American | 1.18% | 85 |
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
- KANK4
- Protein
- p.Asp8=
- Coding
- c.24C>T
- MANE Select
- NM_181712
- dbSNP
- rs17123318
- Type
- single nucleotide variant
- Location
- chr1:62275080 (GRCh38)
- Gene constraint
- LOEUF 0.829 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 57.17
- Residue 8
- the 'disordered' region
Similar variants
- KANK4 p.Ala115Val Uncertain significance ★★ ⚠ same type
- KANK4 p.Ala987Thr Uncertain significance ★★ ⚠ same type
- KANK4 p.Arg336Met Uncertain significance ★★ ⚠ same type
- KANK4 p.Arg471Cys Uncertain significance ★★ ⚠ same type
- KANK4 p.Arg653Cys Uncertain significance ★★ ⚠ same type
- KANK4 p.Arg790Gln Uncertain significance ★★ ⚠ same type
- KANK4 p.Asp266Gly Uncertain significance ★★ ⚠ same type
- KANK4 p.Asp459Val 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/kank4-p-asp8 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown