CYP19A1 p.Ala151=
c.453T>C · rs2032201267 · VCV1661441
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00017%, 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 2.6 | GERP 1.2, phastCons 0.89 |
| Overall | ||
| CADD | 10.86 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00017%
European (non-Finnish) · 2/1,179,160 alleles
Filtering AF
2.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000124%
2/1,612,770 alleles · very rare
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
- CYP19A1
- Protein
- p.Ala151=
- Coding
- c.453T>C
- MANE Select
- NM_000103
- dbSNP
- rs2032201267
- Type
- single nucleotide variant
- Location
- chr15:51222524 (GRCh38)
- Gene constraint
- LOEUF 0.793 · pLI 0.02 (gnomAD)
- Structure
- AlphaFold pLDDT 91.51 · 11 PDB
- Residue 151
- an α-helix
Similar variants
- 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
- CYP19A1 p.Arg86Ter Pathogenic/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-ala151 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown