FKRP p.Pro189fs
c.561_570del · VCV4850778
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Autosomal recessive FKRP-related disorders
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 (4 of 4) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.8 | GERP -0.095, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FKRP
- Protein
- p.Pro189fs
- Coding
- c.561_570del
- MANE Select
- NM_024301
- Type
- Deletion
- Location
- chr19:46756005 (GRCh38)
- Gene constraint
- LOEUF 1.543 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.08 · 8 PDB
- Residue 189
- a disulfide bond; a turn
Disease context
Autosomal recessive FKRP-related disorders
Similar variants
- FKRP p.Thr226fs Pathogenic/Likely pathogenic ★★ same condition
- FKRP p.Pro189= Conflicting classifications of pathogenicity ★ same residue
- FKRP p.Arg48fs Pathogenic/Likely pathogenic ★★ same condition
- FKRP p.Phe56fs Pathogenic/Likely pathogenic ★★ same condition
- FKRP p.Pro89Ser Likely pathogenic ★★ same condition
- FKRP p.Ter496Arg Pathogenic/Likely pathogenic ★★ same condition
- FKRP p.Ala326Asp Likely pathogenic ★ same condition
- FKRP p.Pro315Arg Likely pathogenic ★ same condition
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/fkrp-p-pro189fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown