KRT85 p.Ser190=
c.570C>T · VCV3671810
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00667%, amr)
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 -11 | GERP -3.9 |
| Overall | ||
| CADD | 0.818 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00667%
Admixed American · 4/60,002 alleles
Filtering AF
0.00226%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00168%
Overall
0.00248%
40/1,613,074 alleles · very rare
exomes 39/1,460,854 · genomes 1/152,220 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00667% | 15,001 |
| European (non-Finnish) | 0.00271% | 36,876 |
| South Asian | 0.0022% | 45,513 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,398 |
| African / African-American | 0.00134% | 74,904 |
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.Ser190=
- Coding
- c.570C>T
- MANE Select
- NM_002283
- Type
- single nucleotide variant
- Location
- chr12:52365021 (GRCh38)
- Gene constraint
- LOEUF 0.89 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.09
- Residue 190
- 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-ser190 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown