NMUR1 p.Asp44=
c.132C>T · rs113850251 · VCV787245
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.947%, afr)
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 -9 | GERP -3.9 |
| Overall | ||
| CADD | 0.193 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.947%
African / African-American · 711/75,056 alleles
Filtering AF
0.89%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.867%
Overall
0.0578%
933/1,614,176 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.947% | 106 |
| South Asian | 0.0823% | 1,214 |
| Middle Eastern | 0.066% | 1,516 |
| Admixed American | 0.06% | 1,667 |
| Remaining individualsnot grpmax-eligible | 0.0592% | 1,689 |
| East Asian | 0.0312% | 3,206 |
| Finnishnot grpmax-eligible | 0.00469% | 21,338 |
| European (non-Finnish) | 0.00449% | 22,265 |
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.Asp44=
- Coding
- c.132C>T
- MANE Select
- NM_006056
- dbSNP
- rs113850251
- Type
- single nucleotide variant
- Location
- chr2:231528889 (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-asp44 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown