CORO7 p.Ala296=
c.888G>A · rs747702648 · VCV2646147
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.004%, 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 -8.5 | GERP -3.8 |
| Overall | ||
| CADD | 2.752 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.004%
African / African-American · 3/74,924 alleles
Filtering AF
0.00106%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000495%
Overall
0.000688%
10/1,453,716 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.004% | 24,975 |
| South Asian | 0.00334% | 29,939 |
| Admixed American | 0.00169% | 58,998 |
| Remaining individualsnot grpmax-eligible | 0.00161% | 62,144 |
| European (non-Finnish) | 0.00017% | 588,408 |
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.Ala296=
- Coding
- c.888G>A
- MANE Select
- NM_024535
- dbSNP
- rs747702648
- Type
- single nucleotide variant
- Location
- chr16:4365013 (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-ala296 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown