CYP19A1 p.Asp381=
c.1143T>C · rs2141034221 · VCV1077519
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · A>C here scores Δ0.92 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2 | GERP -8.3 |
| Overall | ||
| CADD | 0.327 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CYP19A1
- Protein
- p.Asp381=
- Coding
- c.1143T>C
- MANE Select
- NM_000103
- dbSNP
- rs2141034221
- Type
- single nucleotide variant
- Location
- chr15:51212440 (GRCh38)
- Gene constraint
- LOEUF 0.793 · pLI 0.02 (gnomAD)
- Structure
- AlphaFold pLDDT 91.51 · 11 PDB
- Residue 381
- a β-strand
Similar variants
- CYP19A1 p.Asp381Val Uncertain significance ★ ⚠ same residue
- CYP19A1 c.1263+1G>A Pathogenic/Likely pathogenic ★★ same type
- CYP19A1 c.1263+1G>T Pathogenic/Likely pathogenic ★★ same type
- CYP19A1 c.297-1G>C Likely pathogenic ★★ same type
- CYP19A1 p.Arg115Gln Likely pathogenic ★★ same type
- CYP19A1 p.Arg365Gln Likely pathogenic ★★ same type
- CYP19A1 p.Arg375Cys Likely pathogenic ★★ same type
- CYP19A1 p.Arg457Ter Likely pathogenic ★★ 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/cyp19a1-p-asp381 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown