CORO6 p.Pro44Leu
c.131C>T · VCV3835674
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.033%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.734 | pathogenic-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 1.9, phastCons 1 |
| Regional constraint | o/e 1.00 | unconstrained · MANE · 5,686 bp · p 0.91 · regional, not allelic |
| Overall | ||
| CADD | 33.0 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.033%
Middle Eastern · 2/6,062 alleles
Filtering AF
0.0104%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00779%
Overall
0.000929%
15/1,614,154 alleles · ultra-rare
exomes 13/1,461,866 · genomes 2/152,288 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.033% | 3,031 |
| East Asian | 0.0201% | 4,986 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,508 |
| South Asian | 0.0011% | 91,084 |
| European (non-Finnish) | 0.000169% | 590,012 |
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
- CORO6
- Protein
- p.Pro44Leu
- Coding
- c.131C>T
- MANE Select
- NM_032854
- Type
- single nucleotide variant
- Location
- chr17:29621291 (GRCh38)
- Gene constraint
- LOEUF 1.177 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.55 · 1 PDB
- Residue 44
- a β-strand
Similar variants
- CORO6 p.Ala143Thr Uncertain significance ★ same type
- CORO6 p.Ala211Val Uncertain significance ★ same type
- CORO6 p.Ala225Thr Uncertain significance ★ same type
- CORO6 p.Ala372Ser Uncertain significance ★ same type
- CORO6 p.Ala375Gly Uncertain significance ★ same type
- CORO6 p.Ala452Thr Uncertain significance ★ same type
- CORO6 p.Arg118His Uncertain significance ★ same type
- CORO6 p.Arg133Cys 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/coro6-p-pro44leu (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown