NDP p.Ser75=
c.225C>T · rs765170187 · VCV1580262
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0461%, mid)
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 -7.7 | GERP -3.7 |
| Overall | ||
| CADD | 0.023 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0461%
Middle Eastern · 2/4,338 alleles
Filtering AF
0.00815%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00341%
Overall
0.000995%
12/1,206,214 alleles · ultra-rare
exomes 11/1,094,293 · genomes 1/111,921 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0461% | 2,169 |
| Admixed American | 0.0066% | 15,163 |
| Remaining individualsnot grpmax-eligible | 0.00633% | 15,808 |
| European (non-Finnish) | 0.000448% | 223,380 |
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
- NDP
- Protein
- p.Ser75=
- Coding
- c.225C>T
- MANE Select
- NM_000266
- dbSNP
- rs765170187
- Type
- single nucleotide variant
- Location
- chrX:43949976 (GRCh38)
- Structure
- AlphaFold pLDDT 83.92 · 12 PDB
- Residue 75
- the ctck domain; a UniProt-annotated variant site (in nd); a β-strand
Similar variants
- NDP p.Ser75Cys Likely pathogenic ★ ⚠ same residue
- NDP p.Ala118Asp Pathogenic/Likely pathogenic ★★ same type
- NDP p.Arg109Ter Pathogenic ★★ same type
- NDP p.Arg115Ter Pathogenic ★★ same type
- NDP p.Arg121Trp Pathogenic/Likely pathogenic ★★ same type
- NDP p.Arg37Ter Pathogenic/Likely pathogenic ★★ same type
- NDP p.Arg38Cys Pathogenic ★★ same type
- NDP p.Arg74Cys 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/ndp-p-ser75 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown