LORICRIN p.Ser60=
c.180T>G · rs1171304656 · VCV2582862
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,287,834)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -5.8 | GERP -2.1 |
| Overall | ||
| CADD | 4.936 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,287,834). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- LORICRIN
- Protein
- p.Ser60=
- Coding
- c.180T>G
- MANE Select
- NM_000427
- dbSNP
- rs1171304656
- Type
- single nucleotide variant
- Location
- chr1:153261129 (GRCh38)
- Gene constraint
- LOEUF 1.938 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 44.91
Similar variants
- LORICRIN p.Ser115Phe Uncertain significance ★★ ⚠ same type
- LORICRIN p.Ser243Thr Uncertain significance ★★ ⚠ same type
- LORICRIN p.Thr19Ala Uncertain significance ★★ ⚠ same type
- LORICRIN p.Cys51= Benign ★★ same type
- LORICRIN p.Gly108Ala Benign/Likely benign ★★ ⚠ same type
- LORICRIN p.Gly290= Benign ★★ same type
- LORICRIN p.Gly92= Benign ★★ same type
- LORICRIN p.Ser169Phe Benign/Likely benign ★★ ⚠ 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/loricrin-p-ser60 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown