CORO1B p.Ala49=
c.147G>A · rs561335766 · VCV2642019
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.277%, sas)
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 -13 | GERP -5 |
| Overall | ||
| CADD | 4.083 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.277%
South Asian · 252/91,086 alleles
Filtering AF
0.249%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.238%
Overall
0.0208%
335/1,613,558 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.277% | 361 |
| Middle Eastern | 0.033% | 3,030 |
| Remaining individualsnot grpmax-eligible | 0.0272% | 3,677 |
| European (non-Finnish) | 0.00525% | 19,033 |
| Admixed American | 0.00333% | 30,011 |
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
- CORO1B
- Protein
- p.Ala49=
- Coding
- c.147G>A
- MANE Select
- NM_020441
- dbSNP
- rs561335766
- Type
- single nucleotide variant
- Location
- chr11:67442482 (GRCh38)
- Gene constraint
- LOEUF 0.793 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.18 · 6 PDB
Similar variants
- CORO1B p.Ala139Ser Uncertain significance ★ ⚠ same type
- CORO1B p.Ala248Val Uncertain significance ★ ⚠ same type
- CORO1B p.Ala385Gly Uncertain significance ★ ⚠ same type
- CORO1B p.Ala450Ser Uncertain significance ★ ⚠ same type
- CORO1B p.Ala462Val Uncertain significance ★ ⚠ same type
- CORO1B p.Arg134Gln Uncertain significance ★ ⚠ same type
- CORO1B p.Arg145Gln Uncertain significance ★ ⚠ same type
- CORO1B p.Arg170Cys 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/coro1b-p-ala49 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown