CORIN p.Pro344=
c.1032C>T · VCV4967083
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000933%, 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 0.22 | GERP -0.37, phastCons 0.002 |
| Overall | ||
| CADD | 1.772 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000933%
European (non-Finnish) · 11/1,179,568 alleles
Filtering AF
0.0005%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000366%
Overall
0.000682%
11/1,613,344 alleles · very rare
exomes 9/1,461,132 · genomes 2/152,212 · joint denominator
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.Pro344=
- Coding
- c.1032C>T
- MANE Select
- NM_006587
- Type
- single nucleotide variant
- Location
- chr4:47680241 (GRCh38)
- Gene constraint
- LOEUF 1.042 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.20
- Residue 344
- the ldl-receptor class a 3 domain
Similar variants
- LRP4 p.Ser344Asn 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-pro344 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown