KRT85 p.Ala386=
c.1158T>C · rs138298152 · VCV2862566
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.01%, 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 -20 | GERP -3.9 |
| Overall | ||
| CADD | 0.077 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.01%
African / African-American · 757/75,048 alleles
Filtering AF
0.949%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.925%
Overall
0.0528%
852/1,614,176 alleles · low-frequency
exomes 401/1,461,874 · genomes 451/152,302 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.01% | 99 |
| Admixed American | 0.085% | 1,177 |
| Remaining individualsnot grpmax-eligible | 0.0672% | 1,488 |
| European (non-Finnish) | 0.000169% | 590,023 |
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.Ala386=
- Coding
- c.1158T>C
- MANE Select
- NM_002283
- dbSNP
- rs138298152
- Type
- single nucleotide variant
- Location
- chr12:52362391 (GRCh38)
- Gene constraint
- LOEUF 0.89 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.09
- Residue 386
- the if rod domain; the 'coil 2' 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-ala386 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown