AMH p.Pro182=
c.546G>A · rs17854573 · VCV1257796
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Common
common (popmax 22.3%, eas) — too common for a highly-penetrant pathogenic allele
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 -1.9 | GERP -1.6 |
| Overall | ||
| CADD | 1.696 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
22.3%
East Asian · 9,155/41,116 alleles
Filtering AF
21.9%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 21.7%
Overall
5.05%
78,272/1,548,620 alleles · common
exomes 70,761/1,396,336 · genomes 7,511/152,284 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 22.3% | 4 |
| Finnishnot grpmax-eligible | 7.96% | 13 |
| Middle Eastern | 7.48% | 13 |
| Admixed American | 7.41% | 13 |
| Ashkenazi Jewishnot grpmax-eligible | 7.1% | 14 |
| Remaining individualsnot grpmax-eligible | 6.09% | 16 |
| South Asian | 5.87% | 17 |
| European (non-Finnish) | 4.19% | 24 |
| African / African-American | 2.33% | 43 |
| Amishnot grpmax-eligible | 1.1% | 91 |
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
- AMH
- Protein
- p.Pro182=
- Coding
- c.546G>A
- MANE Select
- NM_000479
- dbSNP
- rs17854573
- Type
- single nucleotide variant
- Location
- chr19:2250470 (GRCh38)
- Gene constraint
- LOEUF 1.954 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 69.40 · 3 PDB
Similar variants
- AMH p.Pro182Thr Uncertain significance ★ ⚠ same residue
- AMH p.Arg40Ter Pathogenic/Likely pathogenic ★★ same type
- AMH p.Gln217Ter Pathogenic/Likely pathogenic ★★ same type
- AMH p.Glu389Ter Pathogenic/Likely pathogenic ★★ same type
- AMH p.Gly101Arg Likely pathogenic ★★ same type
- AMH p.Pro151Ser Pathogenic ★★ ⚠ same type
- AMH p.Trp371Ter Pathogenic ★★ same type
- AMH p.Tyr167Cys 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/amh-p-pro182 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown