NMUR1 p.His288=
c.864C>T · rs200462040 · VCV2652002
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.69%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.84 | GERP -2.6 |
| Overall | ||
| CADD | 2.294 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.69%
Admixed American · 374/54,236 alleles
Filtering AF
0.632%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.609%
Overall
0.0287%
450/1,566,092 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.69% | 145 |
| Middle Eastern | 0.106% | 948 |
| African / African-American | 0.0325% | 3,077 |
| Remaining individualsnot grpmax-eligible | 0.0299% | 3,348 |
| South Asian | 0.0118% | 8,500 |
| East Asian | 0.00225% | 44,360 |
| European (non-Finnish) | 0.00156% | 64,134 |
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
- NMUR1
- Protein
- p.His288=
- Coding
- c.864C>T
- MANE Select
- NM_006056
- dbSNP
- rs200462040
- Type
- single nucleotide variant
- Location
- chr2:231528157 (GRCh38)
- Gene constraint
- LOEUF 1.399 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.23 · 2 PDB
Similar variants
- NMUR1 p.Arg259Trp Benign/Likely benign ★★ same type
- NMUR1 p.Ala176Val Uncertain significance ★ ⚠ same type
- NMUR1 p.Ala236Val Uncertain significance ★ ⚠ same type
- NMUR1 p.Ala25Thr Uncertain significance ★ ⚠ same type
- NMUR1 p.Ala269Val Uncertain significance ★ ⚠ same type
- NMUR1 p.Ala350Val Uncertain significance ★ ⚠ same type
- NMUR1 p.Ala412Ser Uncertain significance ★ ⚠ same type
- NMUR1 p.Arg159His Uncertain significance ★ ⚠ 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/nmur1-p-his288 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown