NEMF p.Ala75=
c.225C>G · rs75778865 · VCV770996
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.05%, 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 1.7 | GERP -0.82, phastCons 1 |
| Overall | ||
| CADD | 9.868 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.05%
European (non-Finnish) · 12,346/1,175,816 alleles
Filtering AF
1.03%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.03%
Overall
0.886%
14,249/1,608,920 alleles · low-frequency
exomes 13,134/1,456,656 · genomes 1,115/152,264 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 1.05% | 95 |
| Admixed American | 0.884% | 113 |
| Remaining individualsnot grpmax-eligible | 0.807% | 124 |
| Middle Eastern | 0.53% | 189 |
| South Asian | 0.484% | 207 |
| Finnishnot grpmax-eligible | 0.312% | 320 |
| Ashkenazi Jewishnot grpmax-eligible | 0.267% | 374 |
| African / African-American | 0.16% | 624 |
| East Asian | 0.00223% | 44,818 |
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
- NEMF
- Protein
- p.Ala75=
- Coding
- c.225C>G
- MANE Select
- NM_004713
- dbSNP
- rs75778865
- Type
- single nucleotide variant
- Location
- chr14:49851569 (GRCh38)
- Gene constraint
- LOEUF 0.687 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 69.96 · 2 PDB
- Residue 75
- an α-helix
Similar variants
- NEMF p.Arg671Ter Pathogenic ★★ same type
- NEMF p.Tyr470Ter Pathogenic ★★ same type
- NEMF p.Arg934Ser Uncertain significance ★★ ⚠ same type
- NEMF p.Ile248Thr Uncertain significance ★★ ⚠ same type
- NEMF p.Pro584Ser Uncertain significance ★★ ⚠ same type
- NEMF p.Ser785Pro Uncertain significance ★★ ⚠ same type
- NEMF c.1915+8C>T Likely benign ★★ same type
- NEMF p.Arg11= Likely benign ★★ 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/nemf-p-ala75 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown