KRT1 p.Arg616fs
c.1846dup · VCV4718755
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (9 of 9) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.99 | GERP -1.9, phastCons 0.52 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- KRT1
- Protein
- p.Arg616fs
- Coding
- c.1846dup
- MANE Select
- NM_006121
- Type
- Duplication
- Location
- chr12:52675281 (GRCh38)
- Gene constraint
- LOEUF 0.7 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 66.62 · 3 PDB
- Residue 616
- the 'tail' region; the 'disordered' region
Similar variants
- KRT1 p.Arg616Gln Uncertain significance ★★ ⚠ same residue
- KRT1 p.Arg616Trp Uncertain significance ★ ⚠ same residue
- KRT1 p.Tyr587fs Pathogenic ★ same type
- KRT1 p.Leu437_Ala440dup Uncertain significance ★ same type
- KRT1 p.Met1fs Uncertain significance ★ same type
- KRT1 p.Gly621fs Pathogenic same type
- KRT1 p.Val623fs Pathogenic 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/krt1-p-arg616fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown