Is DRP2 p.Leu197= (c.591C>T) pathogenic?

DRP2 p.Leu197= (c.591C>T) is classified Likely benign in DRP2 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-09-06). Absent from gnomAD v4.1.

How common is DRP2 p.Leu197= (c.591C>T) in the general population?

DRP2 p.Leu197= (c.591C>T) is absent from gnomAD v4.1 (gnomAD).

DRP2 p.Leu197=

c.591C>T · rs2523069017 · VCV1925124

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

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 -0.069	GERP -3.4, phastCons 0.86
Overall
CADD	5.274	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: DRP2
Protein: p.Leu197=
Coding: c.591C>T
MANE Select: NM_001197293 · reported on NM_001939
dbSNP: rs2523069017
Type: single nucleotide variant
Location: chrX:101241699 (GRCh38)
Structure: AlphaFold pLDDT 90.49 · 15 PDB
Residue 197: a β-strand

Full DRP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DRP2 p.Leu197Phe Likely benign ★★ ⚠ 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-leu197 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown