NHS p.Pro84=
c.252G>A · VCV4949033
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,082,322)
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 -0.095 | GERP -1.8 |
| Overall | ||
| CADD | 2.572 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,082,322). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- NHS
- Protein
- p.Pro84=
- Coding
- c.252G>A
- MANE Select
- NM_001291867
- Type
- single nucleotide variant
- Location
- chrX:17376009 (GRCh38)
- Structure
- AlphaFold pLDDT 43.65
- Residue 84
- the 'wave homology domain (whd)' region; the 'disordered' region
Similar variants
- NHS p.Pro84Arg Uncertain significance ★ 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-pro84 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown