DROSHA p.Pro87=
c.261G>A · rs34318439 · VCV769297
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.98%, afr)
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 -20 | GERP -3.1 |
| Overall | ||
| CADD | 0.015 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.98%
African / African-American · 2,222/44,640 alleles
Filtering AF
4.81%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.74%
Overall
0.518%
6,855/1,323,714 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 4.98% | 20 |
| South Asian | 3.62% | 28 |
| Middle Eastern | 2.14% | 47 |
| Ashkenazi Jewishnot grpmax-eligible | 1.11% | 90 |
| Admixed American | 0.85% | 118 |
| Remaining individualsnot grpmax-eligible | 0.725% | 138 |
| European (non-Finnish) | 0.168% | 597 |
| Finnishnot grpmax-eligible | 0.0459% | 2,180 |
| East Asian | 0.0196% | 5,109 |
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
- DROSHA
- Protein
- p.Pro87=
- Coding
- c.261G>A
- MANE Select
- NM_001382508
- dbSNP
- rs34318439
- Type
- single nucleotide variant
- Location
- chr5:31526672 (GRCh38)
- Gene constraint
- LOEUF 0.39 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 70.94 · 12 PDB
- Residue 87
- the 'disordered' region
Similar variants
- DROSHA p.Arg234Ter Uncertain significance ★★ same type
- DROSHA p.Asp248His Uncertain significance ★★ ⚠ same type
- DROSHA p.Lys1373Glu Uncertain significance ★★ ⚠ same type
- DROSHA p.Pro100Leu Uncertain significance ★★ ⚠ same type
- DROSHA c.3216+9A>G Benign ★★ same type
- DROSHA p.Ile1309= Benign ★★ same type
- DROSHA p.Leu1009= Benign ★★ same type
- DROSHA p.Lys388= 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/drosha-p-pro87 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown