KRT86 p.Ser67=
c.201C>T · VCV4916927
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.972%, eas)
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 -20 | GERP -3.8 |
| Overall | ||
| CADD | 2.833 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.972%
East Asian · 406/41,768 alleles
Filtering AF
0.894%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.863%
Overall
0.0365%
567/1,552,288 alleles · rare
exomes 518/1,405,366 · genomes 49/146,922 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.972% | 103 |
| South Asian | 0.0452% | 2,215 |
| Remaining individualsnot grpmax-eligible | 0.0366% | 2,736 |
| European (non-Finnish) | 0.00861% | 11,608 |
| Admixed American | 0.00192% | 52,216 |
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
- KRT86
- Protein
- p.Ser67=
- Coding
- c.201C>T
- MANE Select
- NM_001320198
- Type
- single nucleotide variant
- Location
- chr12:52302117 (GRCh38)
- Gene constraint
- LOEUF 1.044 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.50
- Residue 67
- the 'head' region
Similar variants
- KRT86 p.Ala293Asp Uncertain significance ★★ ⚠ same type
- KRT81 p.Ala359= Benign ★★ same type
- KRT86 c.1027-116G>A Benign ★★ same type
- KRT86 c.1027-15C>T Likely benign ★★ same type
- KRT86 c.1247+36C>A Benign ★★ same type
- KRT86 c.1248-152C>T Likely benign ★★ same type
- KRT86 c.370-9G>A Likely benign ★★ same type
- KRT86 c.578+178G>C 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/krt86-p-ser67 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown