KRT17 p.Asp93=
c.279C>T · VCV4745367
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.02%, afr)
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 8.7 | GERP 1.7, phastCons 1 |
| Overall | ||
| CADD | 13.01 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.02%
African / African-American · 15/74,984 alleles
Filtering AF
0.0123%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00988%
Overall
0.00105%
17/1,612,746 alleles · ultra-rare
exomes 8/1,460,492 · genomes 9/152,254 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.02% | 4,999 |
| Remaining individualsnot grpmax-eligible | 0.00321% | 31,183 |
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
- KRT17
- Protein
- p.Asp93=
- Coding
- c.279C>T
- MANE Select
- NM_000422
- Type
- single nucleotide variant
- Location
- chr17:41624231 (GRCh38)
- Gene constraint
- LOEUF 0.871 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.28
- Residue 93
- the if rod domain; a UniProt-annotated variant site (in pc2); the 'coil 1a' region
Similar variants
- KRT17 p.Arg94Cys Pathogenic ★★ same type
- KRT17 p.Arg94His Pathogenic/Likely pathogenic ★★ same type
- KRT17 p.Arg94Leu Likely pathogenic ★★ same type
- KRT17 p.Asn92Asp Pathogenic ★★ same type
- KRT17 p.Asn92Ser Pathogenic ★★ same type
- KRT17 p.Leu99Pro Pathogenic/Likely pathogenic ★★ same type
- KRT17 p.Arg406Cys Uncertain significance ★★ ⚠ same type
- KRT17 p.Pro125Arg 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/krt17-p-asp93 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown