DRP2 p.His182=
c.546T>C · rs139926149 · VCV714121
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.493%, 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 0.14 | GERP -1.1, phastCons 0.018 |
| Overall | ||
| CADD | 5.279 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.493%
European (non-Finnish) · 4,411/894,612 alleles
Filtering AF
0.481%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.476%
Overall
0.384%
4,644/1,208,345 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.493% | 203 |
| Remaining individualsnot grpmax-eligible | 0.286% | 350 |
| Admixed American | 0.107% | 930 |
| Finnishnot grpmax-eligible | 0.0474% | 2,110 |
| Middle Eastern | 0.0465% | 2,149 |
| African / African-American | 0.0316% | 3,167 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0227% | 4,396 |
| South Asian | 0.00177% | 56,506 |
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.His182=
- Coding
- c.546T>C
- MANE Select
- NM_001197293 · reported on NM_001939
- dbSNP
- rs139926149
- Type
- single nucleotide variant
- Location
- chrX:101239088 (GRCh38)
- Structure
- AlphaFold pLDDT 90.49 · 15 PDB
- Residue 182
- an α-helix
Similar variants
- 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
- DRP2 p.Arg224His 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-his182 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown