DRP2 p.Arg155=
c.465G>T · rs61742259 · VCV781642
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.41%, 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 0.83 | GERP -2.9, phastCons 1 |
| Overall | ||
| CADD | 5.73 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.41%
African / African-American · 2,512/56,958 alleles
Filtering AF
4.27%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.21%
Overall
0.236%
2,850/1,208,807 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 4.41% | 23 |
| Remaining individualsnot grpmax-eligible | 0.338% | 296 |
| Admixed American | 0.285% | 351 |
| Middle Eastern | 0.161% | 620 |
| South Asian | 0.0124% | 8,078 |
| European (non-Finnish) | 0.00369% | 27,115 |
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.Arg155=
- Coding
- c.465G>T
- MANE Select
- NM_001197293 · reported on NM_001939
- dbSNP
- rs61742259
- Type
- single nucleotide variant
- Location
- chrX:101239007 (GRCh38)
- Structure
- AlphaFold pLDDT 90.49 · 15 PDB
- Residue 155
- an α-helix
Similar variants
- DRP2 p.Arg155Trp 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-arg155 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown