DRP2 p.Pro174fs
c.521del · VCV4734175
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DRP2
- Protein
- p.Pro174fs
- Coding
- c.521del
- MANE Select
- NM_001197293 · reported on NM_001939
- Type
- Deletion
- Location
- chrX:101239061 (GRCh38)
- Structure
- AlphaFold pLDDT 90.49 · 15 PDB
- Residue 174
- a turn
Similar variants
- DRP2 c.1677_1698+44del Likely pathogenic ★ same type
- DRP2 p.Ala127fs Likely pathogenic ★ same type
- DRP2 p.Glu838fs Pathogenic ★ same type
- DRP2 p.Phe769fs Pathogenic ★ same type
- DRP2 p.Ser776fs Pathogenic ★ same type
- DPYSL2 p.Ala405fs Uncertain significance ★ same type
- DPYSL2 p.Gly91fs Uncertain significance ★ same type
- DRP2 c.1454+107_1454+109del 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/drp2-p-pro174fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown