NDUFS8 p.Pro44=
c.132C>T · rs775950853 · VCV1917046
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0164%, 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 -6.3 | |
| Overall | ||
| CADD | 5.182 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0164%
Middle Eastern · 1/6,084 alleles
Filtering AF
0.0053%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0049%
Overall
0.00533%
86/1,613,772 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0164% | 6,084 |
| Remaining individualsnot grpmax-eligible | 0.0096% | 10,413 |
| European (non-Finnish) | 0.00653% | 15,325 |
| African / African-American | 0.00267% | 37,454 |
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
- NDUFS8
- Protein
- p.Pro44=
- Coding
- c.132C>T
- MANE Select
- NM_002496
- dbSNP
- rs775950853
- Type
- single nucleotide variant
- Location
- chr11:68032945 (GRCh38)
- Gene constraint
- LOEUF 0.775 · pLI 0.03 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 88.73 · 7 PDB
- Residue 44
- an α-helix
Similar variants
- NDUFS8 p.Met147Ile Likely pathogenic ★★ same type
- NDUFS8 c.199+5G>A Uncertain significance ★★ same type
- NDUFS8 p.Ala123Ser Uncertain significance ★★ ⚠ same type
- NDUFS8 p.Ala200Thr Uncertain significance ★★ ⚠ same type
- NDUFS8 p.Arg18Leu Uncertain significance ★★ ⚠ same type
- NDUFS8 p.Arg54Gln Uncertain significance ★★ ⚠ same type
- NDUFS8 p.Arg57Cys Uncertain significance ★★ ⚠ same type
- NDUFS8 p.Arg66Pro 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/ndufs8-p-pro44 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown