SMURF2 p.Pro191=
c.573G>A · rs147881898 · VCV3049663
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.117%, sas)
Conditions
1
SMURF2-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.28 | acceptor gain · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -4.3 | GERP -3.4 |
| Overall | ||
| CADD | 13.89 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.117%
South Asian · 107/91,076 alleles
Filtering AF
0.0994%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0927%
Overall
0.0117%
188/1,613,710 alleles · rare
exomes 168/1,461,726 · genomes 20/151,984 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.117% | 851 |
| Admixed American | 0.01% | 9,994 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,494 |
| European (non-Finnish) | 0.00551% | 18,153 |
| African / African-American | 0.00534% | 18,709 |
| Finnishnot grpmax-eligible | 0.00156% | 63,972 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- SMURF2
- Protein
- p.Pro191=
- Coding
- c.573G>A
- MANE Select
- NM_022739
- dbSNP
- rs147881898
- Type
- single nucleotide variant
- Location
- chr17:64580988 (GRCh38)
- Gene constraint
- LOEUF 0.547 · pLI 0.58 (gnomAD)
- Structure
- AlphaFold pLDDT 77.54 · 8 PDB
Disease context
SMURF2-related disorder
Similar variants
- SMURF2 c.1016+10T>C Likely benign same condition
- SMURF2 c.858-4G>T Likely benign same condition
- SMURF2 p.Glu208= Benign same condition
- SMURF2 p.Gly302= Likely benign same condition
- SMURF2 p.Leu120= Benign same condition
- SMURF2 p.Ser78= Likely benign same condition
- SMURF2 p.Thr168= Likely benign same condition
- SMURF2 p.Thr466= Likely benign 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/smurf2-p-pro191 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown