KRT8 p.Pro29=
c.87C>T · rs112876857 · VCV712604
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.22%, 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 -3.3 | GERP -5.3 |
| Overall | ||
| CADD | 1.834 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.22%
African / African-American · 165/74,998 alleles
Filtering AF
0.193%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.182%
Overall
0.0138%
222/1,612,774 alleles · rare
exomes 117/1,460,538 · genomes 105/152,236 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.22% | 455 |
| Remaining individualsnot grpmax-eligible | 0.0384% | 2,603 |
| Admixed American | 0.03% | 3,333 |
| Middle Eastern | 0.0167% | 6,006 |
| South Asian | 0.0143% | 7,005 |
| European (non-Finnish) | 8.48e-05% | 1,179,902 |
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
- KRT8
- Protein
- p.Pro29=
- Coding
- c.87C>T
- MANE Select
- NM_002273
- dbSNP
- rs112876857
- Type
- single nucleotide variant
- Location
- chr12:52904895 (GRCh38)
- Gene constraint
- LOEUF 0.79 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.13 · 3 PDB
- Residue 29
- the 'head' region; the 'disordered' region
Similar variants
- KRT8 p.Lys464Asn Uncertain significance ★★ ⚠ same type
- KRT8 c.-4T>C Benign ★★ same type
- KRT8 p.Ala333= Benign ★★ same type
- KRT8 p.Arg341His Benign ★★ same type
- KRT8 p.Gly434Ser Benign ★★ same type
- KRT8 p.Gly62Cys Benign/Likely benign ★★ ⚠ same type
- KRT8 p.Ile63Val Benign/Likely benign ★★ ⚠ same type
- KRT8 p.Tyr54His 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/krt8-p-pro29 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown