NEMF p.Pro71=
c.213G>A · VCV3771429
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00669%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -5.6 | GERP -3.3 |
| Overall | ||
| CADD | 6.984 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00669%
East Asian · 3/44,848 alleles
Filtering AF
0.00177%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000892%
Overall
0.0013%
21/1,611,558 alleles · very rare
exomes 17/1,459,422 · genomes 4/152,136 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00669% | 14,949 |
| Admixed American | 0.005% | 19,983 |
| South Asian | 0.0022% | 45,511 |
| European (non-Finnish) | 0.0011% | 90,620 |
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.Pro71=
- Coding
- c.213G>A
- MANE Select
- NM_004713
- Type
- single nucleotide variant
- Location
- chr14:49851581 (GRCh38)
- Gene constraint
- LOEUF 0.687 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 69.96 · 2 PDB
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.Ala75= 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-pro71 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown