KRT85 p.Thr49=
c.147G>A · rs1732275 · VCV1275016
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Common
common (popmax 7.16%, afr) — too common for a highly-penetrant pathogenic allele
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 | 0.107 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
7.16%
African / African-American · 5,373/75,004 alleles
Filtering AF
7%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 6.94%
Overall
0.39%
6,280/1,612,094 alleles · common
exomes 3,146/1,459,768 · genomes 3,134/152,326 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 7.16% | 14 |
| Admixed American | 0.547% | 183 |
| Remaining individualsnot grpmax-eligible | 0.494% | 203 |
| Middle Eastern | 0.282% | 355 |
| South Asian | 0.0242% | 4,138 |
| European (non-Finnish) | 0.0197% | 5,080 |
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.Thr49=
- Coding
- c.147G>A
- MANE Select
- NM_002283
- dbSNP
- rs1732275
- Type
- single nucleotide variant
- Location
- chr12:52367259 (GRCh38)
- Gene constraint
- LOEUF 0.89 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.09
- Residue 49
- the 'head' region
Similar variants
- KRT85 p.Thr49Ala Uncertain significance ★ ⚠ same residue
- 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
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-thr49 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown