CORO7 p.Leu132=
c.394C>T · rs34367968 · VCV775367
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.886%, afr)
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 3.8 | GERP 0.36, phastCons 1 |
| Overall | ||
| CADD | 5.162 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.886%
African / African-American · 662/74,748 alleles
Filtering AF
0.83%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.807%
Overall
0.0488%
778/1,594,330 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.886% | 113 |
| Remaining individualsnot grpmax-eligible | 0.081% | 1,235 |
| Middle Eastern | 0.0663% | 1,508 |
| Admixed American | 0.0387% | 2,586 |
| European (non-Finnish) | 0.00325% | 30,801 |
| South Asian | 0.00226% | 44,170 |
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
- CORO7
- Protein
- p.Leu132=
- Coding
- c.394C>T
- MANE Select
- NM_024535
- dbSNP
- rs34367968
- Type
- single nucleotide variant
- Location
- chr16:4407594 (GRCh38)
- Gene constraint
- LOEUF 1.089 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.71 · 1 PDB
Similar variants
- CORO7-PAM16 p.Arg193Gln Benign ★★ ⚠ same type
- CORO7 p.Arg601His Uncertain significance ★ ⚠ same type
- CORO7 p.Asp50Asn Uncertain significance ★ ⚠ same type
- CORO7 p.Lys151Thr Uncertain significance ★ ⚠ same type
- CORO7 p.Val322Ile Uncertain significance ★ ⚠ same type
- CORO7-PAM16 p.Ala403Val Uncertain significance ★ ⚠ same type
- CORO7-PAM16 p.Arg559Cys Uncertain significance ★ ⚠ same type
- CORO7-PAM16 p.Arg876Trp 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/coro7-p-leu132 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown