MOCOS p.Ser545=
c.1635G>A · VCV4938692
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0267%, eas)
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 -2.2 | GERP -2.7 |
| Overall | ||
| CADD | 1.402 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0267%
East Asian · 12/44,894 alleles
Filtering AF
0.0154%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0121%
Overall
0.00279%
45/1,614,072 alleles · ultra-rare
exomes 44/1,461,894 · genomes 1/152,178 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0267% | 3,741 |
| South Asian | 0.00549% | 18,217 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,244 |
| European (non-Finnish) | 0.0022% | 45,387 |
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
- MOCOS
- Protein
- p.Ser545=
- Coding
- c.1635G>A
- MANE Select
- NM_017947
- Type
- single nucleotide variant
- Location
- chr18:36215815 (GRCh38)
- Gene constraint
- LOEUF 1.19 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 80.88
Similar variants
- MOCOS p.Ser545Ter Pathogenic/Likely pathogenic ★★ same residue
- MOCOS c.1218+1G>C Likely pathogenic ★★ same type
- MOCOS c.2164+2T>C Likely pathogenic ★★ same type
- MOCOS c.232+1G>A Likely pathogenic ★★ same type
- MOCOS p.Arg419Ter Pathogenic ★★ same type
- MOCOS p.Arg776Cys Pathogenic/Likely pathogenic ★★ same type
- MOCOS p.Gln516Ter Likely pathogenic ★★ same type
- MOCOS p.Glu42Ter Likely 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/mocos-p-ser545 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown