Is DRP2 p.Thr672Ala (c.2014A>G) pathogenic?

DRP2 p.Thr672Ala (c.2014A>G) is classified Uncertain significance in DRP2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-01-03). AlphaMissense: ambiguous (0.4156); Absent from gnomAD v4.1; Associated with DRP2-related disorder.

What condition is associated with DRP2 p.Thr672Ala (c.2014A>G)?

DRP2 p.Thr672Ala (c.2014A>G) is associated with DRP2-related disorder (ClinVar).

How common is DRP2 p.Thr672Ala (c.2014A>G) in the general population?

DRP2 p.Thr672Ala (c.2014A>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about DRP2 p.Thr672Ala (c.2014A>G)?

AlphaMissense predicts ambiguous (score 0.4156) — an in-silico prediction, not a clinical call.

DRP2 p.Thr672Ala

c.2014A>G · rs2520287719 · VCV2629683

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.4156 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

DRP2-related disorder

Computational evidence

Protein change
AlphaMissense	0.4156	ambiguous
REVEL	0.484	indeterminate
SaProt	LLR -1.02	tolerated
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 9.4	GERP -0.63, phastCons 1
Overall
CADD	24.5	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

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.Thr672Ala
Coding: c.2014A>G
MANE Select: NM_001197293 · reported on NM_001939
dbSNP: rs2520287719
Type: single nucleotide variant
Location: chrX:101254461 (GRCh38)
Structure: AlphaFold pLDDT 90.49 · 15 PDB

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

Disease context

DRP2-related disorder

Similar variants

DPYSL2 p.Asp520Asn Uncertain significance ★★ ⚠ same condition
DRP2 p.Gln336Ter Conflicting classifications of pathogenicity ★ same condition
DRP2 p.His758Gln Uncertain significance ★ ⚠ same condition
DPYSL2 p.Asp308Asn Uncertain significance same condition
DRP2 p.Arg457His Uncertain significance ⚠ same condition
DPYSL2 p.Arg278His Likely benign same condition
DPYSL2 p.Lys503= Likely benign same condition
DPYSL2 p.Gly91fs Uncertain significance ★ same condition

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-thr672ala (accessed [today's date]).

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