DRP2 p.Glu537=
c.1611G>A · rs750143971 · VCV1538441
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0623%, eas)
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 · G>T here scores Δ0.44 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.3 | GERP -2.3, phastCons 1 |
| Overall | ||
| CADD | 10.72 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0623%
East Asian · 21/33,717 alleles
Filtering AF
0.0416%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.035%
Overall
0.00802%
97/1,209,218 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0623% | 1,606 |
| South Asian | 0.0459% | 2,180 |
| Middle Eastern | 0.023% | 4,352 |
| Remaining individualsnot grpmax-eligible | 0.00841% | 11,897 |
| European (non-Finnish) | 0.00492% | 20,340 |
| African / African-American | 0.00175% | 57,059 |
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
- DRP2
- Protein
- p.Glu537=
- Coding
- c.1611G>A
- MANE Select
- NM_001197293 · reported on NM_001939
- dbSNP
- rs750143971
- Type
- single nucleotide variant
- Location
- chrX:101250493 (GRCh38)
- Structure
- AlphaFold pLDDT 90.49 · 15 PDB
- Residue 537
- the 'disordered' region; a modified residue (phosphoserine)
Similar variants
- DPYSL2 p.Asn537Thr Uncertain significance ⚠ same residue
- DRP2 p.Glu432Ter Pathogenic ★★ same type
- DPYSL2 p.Asn492Ser Uncertain significance ★★ ⚠ same type
- DPYSL2 p.Asp520Asn Uncertain significance ★★ ⚠ same type
- DRP2 p.Ala205Val Uncertain significance ★★ ⚠ same type
- DRP2 p.Ala643Thr Uncertain significance ★★ ⚠ same type
- DRP2 p.Arg199His Uncertain significance ★★ ⚠ same type
- DRP2 p.Arg224Cys Uncertain significance ★★ ⚠ 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/drp2-p-glu537 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown