PROP1 p.Arg73fs
c.218_225del · rs2480287941 · VCV2862658
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 2 of 3 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 8.1 | 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
- PROP1
- Protein
- p.Arg73fs
- Coding
- c.218_225del
- MANE Select
- NM_006261
- dbSNP
- rs2480287941
- Type
- Deletion
- Location
- chr5:177994223 (GRCh38)
- Gene constraint
- LOEUF 0.87 · pLI 0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 70.74
- Residue 73
- a DNA-binding region; the 'disordered' region; a UniProt-annotated variant site (in cphd2; familial; no detectable dna binding observed with the mutant protein in electromobility shift assays; whereas in vitro translated prop1 and the mutant proteins were similar in their expression and electrophoretic properties); a UniProt-annotated variant site (in cphd2; familial)
Similar variants
- PROP1 p.Arg73Cys Pathogenic ★★ same residue
- PROP1 p.Arg73His Pathogenic ★★ same residue
- PROP1 p.Arg104fs Pathogenic/Likely pathogenic ★★ same type
- PROP1 p.Gly204fs Likely pathogenic ★★ same type
- PROP1 p.Leu131fs Pathogenic/Likely pathogenic ★★ same type
- PROP1 p.Leu22fs Pathogenic ★★ same type
- PROP1 p.Pro210fs Likely pathogenic ★★ same type
- PROP1 p.Pro32fs Pathogenic/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/prop1-p-arg73fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown