SUMF1 p.Pro191fs
c.572del · rs2469868272 · VCV2066505
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 4 of 9 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -3.1 | GERP -3.6 |
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
- SUMF1
- Protein
- p.Pro191fs
- Coding
- c.572del
- MANE Select
- NM_182760
- dbSNP
- rs2469868272
- Type
- Deletion
- Location
- chr3:4420094 (GRCh38)
- Gene constraint
- LOEUF 1.254 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.39 · 21 PDB
Disease context
mucosulfatidosis — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Multiple sulfatase deficiency (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adolescent, Antenatal, Childhood, Infancy, Neonatal
Similar variants
- SUMF1 p.Pro191Leu Uncertain significance ★ ⚠ same residue
- SUMF1 p.Pro191Thr Uncertain significance ★ ⚠ same residue
- SUMF1 p.Pro191= Likely benign ★ same residue
- SUMF1 c.603-2del Pathogenic/Likely pathogenic ★★ same condition
- SUMF1 c.726-1_726del Pathogenic/Likely pathogenic ★★ same condition
- SUMF1 c.955-3_970del Pathogenic/Likely pathogenic ★★ same condition
- SUMF1 p.Ile94fs Pathogenic/Likely pathogenic ★★ same condition
- SUMF1 p.Thr278fs Pathogenic/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/sumf1-p-pro191fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown