NHS p.Pro84Arg
c.251C>G · VCV3362086
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.017 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.46 | GERP -1.1 |
| Regional constraint | o/e 0.79 | unconstrained · MANE · 357 kb · p 1.3e-14 · regional, not allelic |
| Overall | ||
| CADD | 17.24 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- NHS
- Protein
- p.Pro84Arg
- Coding
- c.251C>G
- MANE Select
- NM_001291867
- Type
- single nucleotide variant
- Location
- chrX:17376008 (GRCh38)
- Structure
- AlphaFold pLDDT 43.65
- Residue 84
- the 'wave homology domain (whd)' region; the 'disordered' region
Similar variants
- NHS p.Pro84= Likely benign ★ same residue
- NHS p.Arg248Ter Pathogenic ★★ same type
- NHS p.Arg394Ter Pathogenic ★★ same type
- NHS p.Arg900Ter Pathogenic ★★ same type
- NHS p.Gln411Ter Pathogenic ★★ same type
- NHS p.Gln80Ter Pathogenic/Likely pathogenic ★★ same type
- NHS p.Ala564Val Uncertain significance ★★ same type
- NHS p.Ala745Val 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/nhs-p-pro84arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown