DRP2 p.Pro57=
c.171C>G · rs138702280 · VCV723863
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.706%, 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 1.4 | GERP 0.8, phastCons 0.97 |
| Overall | ||
| CADD | 8.716 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.706%
African / African-American · 405/57,347 alleles
Filtering AF
0.649%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.627%
Overall
0.0391%
473/1,210,278 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.706% | 142 |
| Remaining individualsnot grpmax-eligible | 0.0651% | 1,536 |
| Admixed American | 0.0523% | 1,910 |
| South Asian | 0.0123% | 8,115 |
| European (non-Finnish) | 0.00067% | 149,200 |
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.Pro57=
- Coding
- c.171C>G
- MANE Select
- NM_001197293 · reported on NM_001939
- dbSNP
- rs138702280
- Type
- single nucleotide variant
- Location
- chrX:101235913 (GRCh38)
- Structure
- AlphaFold pLDDT 90.49 · 15 PDB
- Residue 57
- a β-strand
Similar variants
- DRP2 p.Pro57Thr Uncertain significance ★★ ⚠ same residue
- DRP2 p.Pro57Leu 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
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-pro57 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown