NEU1 p.Pro271=
c.813A>G · rs746517185 · VCV2771208
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00305%, nfe)
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 -5.1 | GERP -5.4 |
| Overall | ||
| CADD | 1.529 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00305%
European (non-Finnish) · 36/1,180,004 alleles
Filtering AF
0.00223%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00198%
Overall
0.00236%
38/1,613,040 alleles · very rare
exomes 36/1,460,944 · genomes 2/152,096 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00305% | 32,778 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,480 |
| South Asian | 0.0011% | 91,080 |
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
- NEU1
- Protein
- p.Pro271=
- Coding
- c.813A>G
- MANE Select
- NM_000434
- dbSNP
- rs746517185
- Type
- single nucleotide variant
- Location
- chr6:31860250 (GRCh38)
- Gene constraint
- LOEUF 1.045 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.12
Similar variants
- NEU1 p.Pro271Ala Uncertain significance ★ ⚠ same residue
- NEU1 p.Arg280Gln Likely pathogenic ★★ same type
- NEU1 p.Arg280Ter Pathogenic ★★ same type
- NEU1 p.Arg294Cys Pathogenic/Likely pathogenic ★★ ⚠ same type
- NEU1 p.Arg305Cys Pathogenic/Likely pathogenic ★★ ⚠ same type
- NEU1 p.Arg341Gly Likely pathogenic ★★ same type
- NEU1 p.Arg341Ter Pathogenic/Likely pathogenic ★★ same type
- NEU1 p.Gln55Ter 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/neu1-p-pro271 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown