KRIT1 p.Pro586fs
c.1754dup · rs1563242899 · VCV590721
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 16 of 19 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.9 | GERP 1.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- KRIT1
- Protein
- p.Pro586fs
- Coding
- c.1754dup
- MANE Select
- NM_194454
- dbSNP
- rs1563242899
- Type
- Duplication
- Location
- chr7:92213955 (GRCh38)
- Gene constraint
- LOEUF 0.69 · pLI 0.11 (gnomAD)
- Structure
- AlphaFold pLDDT 83.01 · 15 PDB
- Residue 586
- the ferm domain
Similar variants
- KRIT1 p.Ile584fs Pathogenic ★★ same type
- KRIT1 p.Ser313fs Pathogenic ★★ same type
- KRIT1 p.Thr227fs Pathogenic ★★ same type
- KRIT1 p.Tyr133fs Pathogenic ★★ same type
- KRIT1 c.730-16dup Likely benign ★★ same type
- KRIT1 c.846-5dup Benign/Likely benign ★★ same type
- KRIT1 c.2142+2dup Likely pathogenic ★ same type
- KRIT1 p.Ala492fs Likely 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/krit1-p-pro586fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown