COX20 p.Leu71=
c.211T>C · rs758433335 · VCV1200956
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0134%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · T>A here scores Δ0.20 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 3.5 | GERP -0.43, phastCons 1 |
| Overall | ||
| CADD | 17.17 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0134%
East Asian · 6/44,814 alleles
Filtering AF
0.00579%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00394%
Overall
0.00106%
17/1,605,760 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0134% | 7,469 |
| African / African-American | 0.00937% | 10,676 |
| Admixed American | 0.00333% | 30,001 |
| Remaining individualsnot grpmax-eligible | 0.00321% | 31,121 |
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
- COX20
- Protein
- p.Leu71=
- Coding
- c.211T>C
- MANE Select
- NM_198076
- dbSNP
- rs758433335
- Type
- single nucleotide variant
- Location
- chr1:244842248 (GRCh38)
- Gene constraint
- LOEUF 1.927 · pLI 0.06 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 66.42
Similar variants
- COX20 c.157+3G>C Pathogenic/Likely pathogenic ★★ same type
- COX20 p.Lys14Arg Pathogenic ★★ ⚠ same type
- COX20 p.Tyr36Ter Likely pathogenic ★★ same type
- COX20 p.Ala3Thr Uncertain significance ★★ ⚠ same type
- COX20 p.Arg31Trp Uncertain significance ★★ ⚠ same type
- COX20 p.Arg54Gly Uncertain significance ★★ ⚠ same type
- COX20 p.Asp107Asn Uncertain significance ★★ ⚠ same type
- COX20 p.Asp107His 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/cox20-p-leu71 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown