Is DRP2 p.Arg797Gln (c.2390G>A) pathogenic?

DRP2 p.Arg797Gln (c.2390G>A) is classified Uncertain significance in DRP2 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-10-15). AlphaMissense: likely benign (0.1351); Ultra-rare (popmax 0.0763%, amr).

How common is DRP2 p.Arg797Gln (c.2390G>A) in the general population?

DRP2 p.Arg797Gln (c.2390G>A) is ultra-rare (popmax 0.0763%, amr) (gnomAD).

What do computational predictors say about DRP2 p.Arg797Gln (c.2390G>A)?

AlphaMissense predicts likely benign (score 0.1351) — an in-silico prediction, not a clinical call.

DRP2 p.Arg797Gln

c.2390G>A · rs780525649 · VCV1347462

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1351 · ACMG-weighted

gnomAD v4.1

Rare

ultra-rare (popmax 0.0763%, amr)

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.1351	likely benign
REVEL	0.679	pathogenic-leaning
SaProt	LLR -8.05	tolerated
⇒ REVEL calls this damaging; AlphaMissense and SaProt do not.
Splicing
SpliceAI	Δ0.43	donor gain · deltas
Pangolin	Δ0.39	loss · gain 0.16 · SpliceAI calls gain · independent
Constraint at this position
Conservation	phyloP 7.7	GERP 1.6, phastCons 1
Overall
CADD	35.0	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0763% Admixed American · 31/40,613 alleles

Filtering AF 0.0552% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.048%

Overall 0.0102% 120/1,176,931 alleles · ultra-rare

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.0763%	1,310
Ashkenazi Jewishnot grpmax-eligible	0.05%	2,001
Middle Eastern	0.0473%	2,112
Remaining individualsnot grpmax-eligible	0.0152%	6,593
European (non-Finnish)	0.00749%	13,345
African / African-American	0.00713%	14,032

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.Arg797Gln
Coding: c.2390G>A
MANE Select: NM_001197293 · reported on NM_001939
dbSNP: rs780525649
Type: single nucleotide variant
Location: chrX:101256261 (GRCh38)
Structure: AlphaFold pLDDT 90.49 · 15 PDB

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

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-arg797gln (accessed [today's date]).

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