Is DRC10 p.Gln172Pro (c.515A>C) pathogenic?

DRC10 p.Gln172Pro (c.515A>C) is classified Uncertain significance in DRC10 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-02-17). AlphaMissense: likely benign (0.1309); Absent from gnomAD v4.1.

How common is DRC10 p.Gln172Pro (c.515A>C) in the general population?

DRC10 p.Gln172Pro (c.515A>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about DRC10 p.Gln172Pro (c.515A>C)?

AlphaMissense predicts likely benign (score 0.1309) — an in-silico prediction, not a clinical call.

DRC10 p.Gln172Pro

c.515A>C · rs1952878198 · VCV3110411

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1309 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.1309	likely benign
REVEL	0.138	moderately benign-leaning
SaProt	LLR -11.89	damaging
⇒ SaProt calls this damaging; AlphaMissense and REVEL do not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.68	GERP 0.4, phastCons 0.62
Regional constraint	o/e 0.90	unconstrained · MANE · 13 kb · p 0.015 · regional, not allelic
Overall
CADD	15.87	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: DRC10
Protein: p.Gln172Pro
Coding: c.515A>C
MANE Select: NM_001330452
dbSNP: rs1952878198
Type: single nucleotide variant
Location: chr12:113207652 (GRCh38)
Structure: AlphaFold pLDDT 82.03 · 1 PDB

Full DRC10 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DRC10 p.Ala31Thr Uncertain significance ★ ⚠ same type
DRC10 p.Ala393Ser Uncertain significance ★ ⚠ same type
DRC10 p.Ala403Val Uncertain significance ★ ⚠ same type
DRC10 p.Ala404Thr Uncertain significance ★ ⚠ same type
DRC10 p.Ala59Val Uncertain significance ★ ⚠ same type
DRC10 p.Arg191Cys Uncertain significance ★ ⚠ same type
DRC10 p.Arg399Gly Uncertain significance ★ ⚠ same type
DRC10 p.Arg426Gln 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/drc10-p-gln172pro (accessed [today's date]).

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