KRT85 p.Ala188=
c.564C>T · rs145678235 · VCV2048228
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0521%, 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 -20 | GERP -3.9 |
| Overall | ||
| CADD | 0.101 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0521%
European (non-Finnish) · 615/1,180,024 alleles
Filtering AF
0.0486%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0473%
Overall
0.0399%
644/1,613,256 alleles · ultra-rare
exomes 612/1,460,936 · genomes 32/152,320 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0521% | 1,919 |
| Remaining individualsnot grpmax-eligible | 0.0288% | 3,469 |
| African / African-American | 0.0107% | 9,378 |
| South Asian | 0.0033% | 30,343 |
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
- KRT85
- Protein
- p.Ala188=
- Coding
- c.564C>T
- MANE Select
- NM_002283
- dbSNP
- rs145678235
- Type
- single nucleotide variant
- Location
- chr12:52365027 (GRCh38)
- Gene constraint
- LOEUF 0.89 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.09
- Residue 188
- the if rod domain; the 'coil 1b' region
Similar variants
- KRT85 p.Arg142His Uncertain significance ★★ ⚠ same type
- KRT85 p.Arg315His Uncertain significance ★★ ⚠ same type
- KRT85 p.Arg465His Uncertain significance ★★ ⚠ same type
- KRT85 p.Asn115Lys Uncertain significance ★★ ⚠ same type
- KRT85 p.Glu352Lys Uncertain significance ★★ ⚠ same type
- KRT85 p.Gly390Ser Uncertain significance ★★ ⚠ same type
- KRT85 p.Gly89Arg Uncertain significance ★★ ⚠ same type
- KRT85 c.1078-17G>A Benign/Likely 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/krt85-p-ala188 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown