CORIN p.Thr396=
c.1188G>A · rs61760501 · VCV778859
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.365%, nfe)
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 -4 | GERP -5.9 |
| Overall | ||
| CADD | 0.168 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.365%
European (non-Finnish) · 4,312/1,179,928 alleles
Filtering AF
0.356%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.353%
Overall
0.307%
4,949/1,614,052 alleles · rare
exomes 4,639/1,461,752 · genomes 310/152,300 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.365% | 274 |
| Remaining individualsnot grpmax-eligible | 0.246% | 406 |
| Admixed American | 0.242% | 414 |
| South Asian | 0.195% | 512 |
| Ashkenazi Jewishnot grpmax-eligible | 0.189% | 529 |
| Middle Eastern | 0.099% | 1,010 |
| African / African-American | 0.06% | 1,668 |
| Finnishnot grpmax-eligible | 0.05% | 2,001 |
| East Asian | 0.0468% | 2,136 |
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
- CORIN
- Protein
- p.Thr396=
- Coding
- c.1188G>A
- MANE Select
- NM_006587
- dbSNP
- rs61760501
- Type
- single nucleotide variant
- Location
- chr4:47677999 (GRCh38)
- Gene constraint
- LOEUF 1.042 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.20
- Residue 396
- the ldl-receptor class a 4 domain
Similar variants
- LRP4 p.Val396Glu Uncertain significance ★ ⚠ same residue
- LRP4 c.316+1G>A Pathogenic ★★ same type
- LRP4 c.547+1G>A Likely pathogenic ★★ same type
- LRP4 p.Gln944Ter Pathogenic ★★ same type
- LRP4 p.Glu1233Ala Pathogenic/Likely pathogenic ★★ ⚠ same type
- CORIN p.Ser542Thr Uncertain significance ★★ ⚠ same type
- CORIN p.Val361Met Uncertain significance ★★ ⚠ same type
- LRP4 c.1309+6G>T 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/corin-p-thr396 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown