CORIN p.Asp300=
c.900C>T · VCV4967084
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0165%, mid)
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 -5 | GERP -4.4 |
| Overall | ||
| CADD | 1.22 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0165%
Middle Eastern · 1/6,060 alleles
Filtering AF
0.000764%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000606%
Overall
0.00124%
20/1,612,438 alleles · ultra-rare
exomes 16/1,460,372 · genomes 4/152,066 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0165% | 6,060 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,221 |
| East Asian | 0.00223% | 44,866 |
| African / African-American | 0.00133% | 74,918 |
| European (non-Finnish) | 0.00127% | 78,581 |
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.Asp300=
- Coding
- c.900C>T
- MANE Select
- NM_006587
- Type
- single nucleotide variant
- Location
- chr4:47692983 (GRCh38)
- Gene constraint
- LOEUF 1.042 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.20
- Residue 300
- the ldl-receptor class a 1 domain
Similar variants
- LRP4 p.Asp300Asn Likely pathogenic ★ 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-asp300 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown